minimap2 0.2.22.0 → 0.2.24.1
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- checksums.yaml +4 -4
- data/README.md +60 -76
- data/ext/Rakefile +55 -0
- data/ext/cmappy/cmappy.c +129 -0
- data/ext/cmappy/cmappy.h +44 -0
- data/ext/minimap2/FAQ.md +46 -0
- data/ext/minimap2/LICENSE.txt +24 -0
- data/ext/minimap2/MANIFEST.in +10 -0
- data/ext/minimap2/Makefile +132 -0
- data/ext/minimap2/Makefile.simde +97 -0
- data/ext/minimap2/NEWS.md +821 -0
- data/ext/minimap2/README.md +403 -0
- data/ext/minimap2/align.c +1020 -0
- data/ext/minimap2/bseq.c +169 -0
- data/ext/minimap2/bseq.h +64 -0
- data/ext/minimap2/code_of_conduct.md +30 -0
- data/ext/minimap2/cookbook.md +243 -0
- data/ext/minimap2/esterr.c +64 -0
- data/ext/minimap2/example.c +63 -0
- data/ext/minimap2/format.c +559 -0
- data/ext/minimap2/hit.c +466 -0
- data/ext/minimap2/index.c +775 -0
- data/ext/minimap2/kalloc.c +205 -0
- data/ext/minimap2/kalloc.h +76 -0
- data/ext/minimap2/kdq.h +132 -0
- data/ext/minimap2/ketopt.h +120 -0
- data/ext/minimap2/khash.h +615 -0
- data/ext/minimap2/krmq.h +474 -0
- data/ext/minimap2/kseq.h +256 -0
- data/ext/minimap2/ksort.h +153 -0
- data/ext/minimap2/ksw2.h +184 -0
- data/ext/minimap2/ksw2_dispatch.c +96 -0
- data/ext/minimap2/ksw2_extd2_sse.c +402 -0
- data/ext/minimap2/ksw2_exts2_sse.c +416 -0
- data/ext/minimap2/ksw2_extz2_sse.c +313 -0
- data/ext/minimap2/ksw2_ll_sse.c +152 -0
- data/ext/minimap2/kthread.c +159 -0
- data/ext/minimap2/kthread.h +15 -0
- data/ext/minimap2/kvec.h +105 -0
- data/ext/minimap2/lchain.c +369 -0
- data/ext/minimap2/main.c +459 -0
- data/ext/minimap2/map.c +714 -0
- data/ext/minimap2/minimap.h +410 -0
- data/ext/minimap2/minimap2.1 +725 -0
- data/ext/minimap2/misc/README.md +179 -0
- data/ext/minimap2/misc/mmphase.js +335 -0
- data/ext/minimap2/misc/paftools.js +3149 -0
- data/ext/minimap2/misc.c +162 -0
- data/ext/minimap2/mmpriv.h +132 -0
- data/ext/minimap2/options.c +234 -0
- data/ext/minimap2/pe.c +177 -0
- data/ext/minimap2/python/README.rst +196 -0
- data/ext/minimap2/python/cmappy.h +152 -0
- data/ext/minimap2/python/cmappy.pxd +153 -0
- data/ext/minimap2/python/mappy.pyx +273 -0
- data/ext/minimap2/python/minimap2.py +39 -0
- data/ext/minimap2/sdust.c +213 -0
- data/ext/minimap2/sdust.h +25 -0
- data/ext/minimap2/seed.c +131 -0
- data/ext/minimap2/setup.py +55 -0
- data/ext/minimap2/sketch.c +143 -0
- data/ext/minimap2/splitidx.c +84 -0
- data/ext/minimap2/sse2neon/emmintrin.h +1689 -0
- data/ext/minimap2/test/MT-human.fa +278 -0
- data/ext/minimap2/test/MT-orang.fa +276 -0
- data/ext/minimap2/test/q-inv.fa +4 -0
- data/ext/minimap2/test/q2.fa +2 -0
- data/ext/minimap2/test/t-inv.fa +127 -0
- data/ext/minimap2/test/t2.fa +2 -0
- data/ext/minimap2/tex/Makefile +21 -0
- data/ext/minimap2/tex/bioinfo.cls +930 -0
- data/ext/minimap2/tex/blasr-mc.eval +17 -0
- data/ext/minimap2/tex/bowtie2-s3.sam.eval +28 -0
- data/ext/minimap2/tex/bwa-s3.sam.eval +52 -0
- data/ext/minimap2/tex/bwa.eval +55 -0
- data/ext/minimap2/tex/eval2roc.pl +33 -0
- data/ext/minimap2/tex/graphmap.eval +4 -0
- data/ext/minimap2/tex/hs38-simu.sh +10 -0
- data/ext/minimap2/tex/minialign.eval +49 -0
- data/ext/minimap2/tex/minimap2.bib +460 -0
- data/ext/minimap2/tex/minimap2.tex +724 -0
- data/ext/minimap2/tex/mm2-s3.sam.eval +62 -0
- data/ext/minimap2/tex/mm2-update.tex +240 -0
- data/ext/minimap2/tex/mm2.approx.eval +12 -0
- data/ext/minimap2/tex/mm2.eval +13 -0
- data/ext/minimap2/tex/natbib.bst +1288 -0
- data/ext/minimap2/tex/natbib.sty +803 -0
- data/ext/minimap2/tex/ngmlr.eval +38 -0
- data/ext/minimap2/tex/roc.gp +60 -0
- data/ext/minimap2/tex/snap-s3.sam.eval +62 -0
- data/ext/minimap2.patch +19 -0
- data/lib/minimap2/aligner.rb +4 -4
- data/lib/minimap2/alignment.rb +11 -11
- data/lib/minimap2/ffi/constants.rb +20 -16
- data/lib/minimap2/ffi/functions.rb +5 -0
- data/lib/minimap2/ffi.rb +4 -5
- data/lib/minimap2/version.rb +2 -2
- data/lib/minimap2.rb +51 -15
- metadata +97 -79
- data/lib/minimap2/ffi_helper.rb +0 -53
- data/vendor/libminimap2.so +0 -0
@@ -0,0 +1,3149 @@
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#!/usr/bin/env k8
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var paftools_version = '2.24-r1122';
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/*****************************
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***** Library functions *****
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*****************************/
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/*******************************
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* Command line option parsing *
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*******************************/
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var getopt = function(args, ostr) {
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var oli; // option letter list index
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if (typeof(getopt.place) == 'undefined')
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getopt.ind = 0, getopt.arg = null, getopt.place = -1;
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if (getopt.place == -1) { // update scanning pointer
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if (getopt.ind >= args.length || args[getopt.ind].charAt(getopt.place = 0) != '-') {
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getopt.place = -1;
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return null;
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}
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if (getopt.place + 1 < args[getopt.ind].length && args[getopt.ind].charAt(++getopt.place) == '-') { // found "--"
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++getopt.ind;
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getopt.place = -1;
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return null;
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}
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}
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var optopt = args[getopt.ind].charAt(getopt.place++); // character checked for validity
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if (optopt == ':' || (oli = ostr.indexOf(optopt)) < 0) {
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if (optopt == '-') return null; // if the user didn't specify '-' as an option, assume it means null.
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return '?';
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}
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if (oli+1 >= ostr.length || ostr.charAt(++oli) != ':') { // don't need argument
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getopt.arg = null;
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if (getopt.place < 0 || getopt.place >= args[getopt.ind].length) ++getopt.ind, getopt.place = -1;
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} else { // need an argument
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if (getopt.place >= 0 && getopt.place < args[getopt.ind].length)
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getopt.arg = args[getopt.ind].substr(getopt.place);
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else if (args.length <= ++getopt.ind) { // no arg
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getopt.place = -1;
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if (ostr.length > 0 && ostr.charAt(0) == ':') return ':';
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return '?';
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} else getopt.arg = args[getopt.ind]; // white space
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getopt.place = -1;
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++getopt.ind;
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}
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return optopt;
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}
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/***********************
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* Interval operations *
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***********************/
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Interval = {};
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Interval.sort = function(a)
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{
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if (typeof a[0] == 'number')
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a.sort(function(x, y) { return x - y });
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else a.sort(function(x, y) { return x[0] != y[0]? x[0] - y[0] : x[1] - y[1] });
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}
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Interval.merge = function(a, sorted)
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{
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if (typeof sorted == 'undefined') sorted = true;
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if (!sorted) Interval.sort(a);
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var k = 0;
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if (a[k][1] >= a[i][0])
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a[k][1] = a[k][1] > a[i][1]? a[k][1] : a[i][1];
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else a[++k] = a[i].slice(0);
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a.length = k + 1;
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Interval.index_end = function(a, sorted)
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{
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if (typeof sorted == 'undefined') sorted = true;
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if (!sorted) Interval.sort(a);
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a[0].push(0);
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var k = 0, k_en = a[0][1];
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for (var i = 1; i < a.length; ++i) {
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for (++k; k < i; ++k)
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if (a[k][1] > a[i][0])
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break;
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k_en = a[k][1];
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}
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a[i].push(k);
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}
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}
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Interval.find_intv = function(a, x)
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{
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var left = -1, right = a.length;
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while (right - left > 1) {
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var mid = left + ((right - left) >> 1);
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return left;
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Interval.find_ovlp = function(a, st, en)
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{
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if (a.length == 0 || st >= en) return [];
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var l = Interval.find_intv(a, st);
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var k = l < 0? 0 : a[l][a[l].length - 1];
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var b = [];
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for (var i = k; i < a.length; ++i) {
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return b;
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/**********************************
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* Reverse and reverse complement *
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**********************************/
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function fasta_read(fn)
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{
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var h = {}, gt = '>'.charCodeAt(0);
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var file = fn == '-'? new File() : new File(fn);
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var buf = new Bytes(), seq = null, name = null, seqlen = [];
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while (file.readline(buf) >= 0) {
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if (buf[0] == gt) {
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seqlen.push([name, seq.length]);
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h[name] = seq;
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name = seq = null;
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}
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var m, line = buf.toString();
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if ((m = /^>(\S+)/.exec(line)) != null) {
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name = m[1];
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seq = new Bytes();
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}
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} else seq.set(buf);
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}
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seqlen.push([name, seq.length]);
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}
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buf.destroy();
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file.close();
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return [h, seqlen];
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}
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function fasta_free(fa)
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{
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}
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Bytes.prototype.reverse = function()
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{
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for (var i = 0; i < this.length>>1; ++i) {
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var tmp = this[i];
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this[i] = this[this.length - i - 1];
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this[this.length - i - 1] = tmp;
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}
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// reverse complement a DNA string
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Bytes.prototype.revcomp = function()
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{
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if (Bytes.rctab == null) {
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var s1 = 'WSATUGCYRKMBDHVNwsatugcyrkmbdhvn';
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var s2 = 'WSTAACGRYMKVHDBNwstaacgrymkvhdbn';
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Bytes.rctab = [];
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for (var i = 0; i < 256; ++i) Bytes.rctab[i] = 0;
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for (var i = 0; i < s1.length; ++i)
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Bytes.rctab[s1.charCodeAt(i)] = s2.charCodeAt(i);
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}
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for (var i = 0; i < this.length>>1; ++i) {
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var tmp = this[this.length - i - 1];
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this[this.length - i - 1] = Bytes.rctab[this[i]];
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this[i] = Bytes.rctab[tmp];
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}
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if (this.length&1)
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this[this.length>>1] = Bytes.rctab[this[this.length>>1]];
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}
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/********************
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***** paftools *****
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********************/
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/*****************
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* Miscellaneous *
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*****************/
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// liftover
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function paf_liftover(args)
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{
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function read_bed(fn, to_merge)
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{
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if (fn == null) return null;
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if (typeof to_merge == 'undefined') to_merge = true;
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var file = fn == '-'? new File() : new File(fn);
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var buf = new Bytes();
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var bed = {};
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while (file.readline(buf) >= 0) {
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var t = buf.toString().split("\t");
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if (bed[t[0]] == null) bed[t[0]] = [];
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bed[t[0]].push([parseInt(t[1]), parseInt(t[2])]);
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}
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buf.destroy();
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file.close();
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for (var chr in bed) {
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Interval.sort(bed[chr]);
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if (to_merge)
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Interval.merge(bed[chr], true);
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Interval.index_end(bed[chr], true);
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}
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return bed;
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}
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var re_cigar = /(\d+)([MID])/g, re_tag = /^(\S\S):([AZif]):(\S+)$/;
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var c, to_merge = false, min_mapq = 5, min_len = 50000, max_div = 2.0;
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var re = /(\d+)([MID])/g;
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while ((c = getopt(args, "mq:l:d:")) != null) {
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if (c == 'm') to_merge = true;
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else if (c == 'q') min_mapq = parseInt(getopt.arg);
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else if (c == 'l') min_len = parseInt(getopt.arg);
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else if (c == 'd') max_div = parseFloat(getopt.arg);
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}
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if (args.length - getopt.ind < 2) {
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print("Usage: paftools.js liftover [options] <aln.paf> <query.bed>");
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print("Options:");
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print(" -q INT min mapping quality [" + min_mapq + "]");
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print(" -l INT min alignment length [" + min_len + "]");
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print(" -d FLOAT max sequence divergence (>=1 to disable) [1]");
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exit(1);
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}
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var bed = read_bed(args[getopt.ind+1], to_merge);
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var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
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var buf = new Bytes();
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while (file.readline(buf) >= 0) {
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var t = buf.toString().split("\t");
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if (bed[t[0]] == null) continue; // sequence not present in BED; skip
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// parse tp and cg tags
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var m, tp = null, cg = null;
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+
for (var i = 12; i < t.length; ++i) {
|
261
|
+
if ((m = re_tag.exec(t[i])) != null) {
|
262
|
+
if (m[1] == 'tp') tp = m[3];
|
263
|
+
else if (m[1] == 'cg') cg = m[3];
|
264
|
+
}
|
265
|
+
}
|
266
|
+
if (tp != 'P' && tp != 'I') continue; // only process primary alignments
|
267
|
+
if (cg == null) throw Error("unable to find the 'cg' tag");
|
268
|
+
|
269
|
+
// filter out bad alignments and check overlaps
|
270
|
+
for (var i = 1; i <= 3; ++i)
|
271
|
+
t[i] = parseInt(t[i]);
|
272
|
+
for (var i = 6; i <= 11; ++i)
|
273
|
+
t[i] = parseInt(t[i]);
|
274
|
+
if (t[11] < min_mapq || t[10] < min_len) continue;
|
275
|
+
var regs = Interval.find_ovlp(bed[t[0]], t[2], t[3]);
|
276
|
+
if (regs.length == 0) continue; // not overlapping any regions in input BED
|
277
|
+
if (max_div >= 0.0 && max_div < 1.0) {
|
278
|
+
var n_gaps = 0, n_opens = 0;
|
279
|
+
while ((m = re_cigar.exec(cg)) != null)
|
280
|
+
if (m[2] == 'I' || m[2] == 'D')
|
281
|
+
n_gaps += parseInt(m[1]), ++n_opens;
|
282
|
+
var n_mm = t[10] - t[9] - n_gaps;
|
283
|
+
var n_diff2 = n_mm + n_opens;
|
284
|
+
if (n_diff2 / (n_diff2 + t[9]) > max_div)
|
285
|
+
continue;
|
286
|
+
}
|
287
|
+
|
288
|
+
// extract start and end positions
|
289
|
+
var a = [], r = [], strand = t[4];
|
290
|
+
for (var i = 0; i < regs.length; ++i) {
|
291
|
+
var s = regs[i][0], e = regs[i][1];
|
292
|
+
if (strand == '+') {
|
293
|
+
a.push([s, 0, i, -2]);
|
294
|
+
a.push([e - 1, 1, i, -2]);
|
295
|
+
} else {
|
296
|
+
a.push([t[1] - e, 0, i, -2]);
|
297
|
+
a.push([t[1] - s - 1, 1, i, -2]);
|
298
|
+
}
|
299
|
+
r.push([-2, -2]);
|
300
|
+
}
|
301
|
+
a.sort(function(x, y) { return x[0] - y[0] });
|
302
|
+
|
303
|
+
// lift start/end positions
|
304
|
+
var k = 0, x = t[7], y = strand == '+'? t[2] : t[1] - t[3];
|
305
|
+
while ((m = re_cigar.exec(cg)) != null) { // TODO: be more careful about edge cases
|
306
|
+
var len = parseInt(m[1]);
|
307
|
+
if (m[2] == 'D') { // do nothing for D
|
308
|
+
x += len;
|
309
|
+
continue;
|
310
|
+
}
|
311
|
+
while (k < a.length && a[k][0] < y) ++k; // skip out-of-range positions
|
312
|
+
for (var i = k; i < a.length; ++i) {
|
313
|
+
if (y <= a[i][0] && a[i][0] < y + len)
|
314
|
+
a[i][3] = m[2] == 'M'? x + (a[i][0] - y) : x;
|
315
|
+
else break;
|
316
|
+
}
|
317
|
+
y += len;
|
318
|
+
if (m[2] == 'M') x += len;
|
319
|
+
}
|
320
|
+
if (x != t[8] || (strand == '+' && y != t[3]) || (strand == '-' && y != t[1] - t[2]))
|
321
|
+
throw Error("CIGAR is inconsistent with mapping coordinates");
|
322
|
+
|
323
|
+
// generate result
|
324
|
+
for (var i = 0; i < a.length; ++i) {
|
325
|
+
if (a[i][1] == 0) r[a[i][2]][0] = a[i][3];
|
326
|
+
else r[a[i][2]][1] = a[i][3] + 1; // change to half-close-half-open
|
327
|
+
}
|
328
|
+
for (var i = 0; i < r.length; ++i) {
|
329
|
+
var name = [t[0], regs[i][0], regs[i][1]].join("_");
|
330
|
+
if (r[i][0] < 0) name += "_t5", r[i][0] = t[7];
|
331
|
+
if (r[i][1] < 0) name += "_t3", r[i][1] = t[8];
|
332
|
+
print(t[5], r[i][0], r[i][1], name, 0, strand);
|
333
|
+
}
|
334
|
+
}
|
335
|
+
buf.destroy();
|
336
|
+
file.close();
|
337
|
+
}
|
338
|
+
|
339
|
+
// variant calling
|
340
|
+
function paf_call(args)
|
341
|
+
{
|
342
|
+
var re_cs = /([:=*+-])(\d+|[A-Za-z]+)/g, re_tag = /\t(\S\S:[AZif]):(\S+)/g;
|
343
|
+
var c, min_cov_len = 10000, min_var_len = 50000, gap_thres = 50, gap_thres_long = 1000, min_mapq = 5;
|
344
|
+
var fa_tmp = null, fa, fa_lens, is_vcf = false, sample_name = "sample";
|
345
|
+
while ((c = getopt(args, "l:L:g:q:B:f:s:")) != null) {
|
346
|
+
if (c == 'l') min_cov_len = parseInt(getopt.arg);
|
347
|
+
else if (c == 'L') min_var_len = parseInt(getopt.arg);
|
348
|
+
else if (c == 'g') gap_thres = parseInt(getopt.arg);
|
349
|
+
else if (c == 'G') gap_thres_long = parseInt(getopt.arg);
|
350
|
+
else if (c == 'q') min_mapq = parseInt(getopt.arg);
|
351
|
+
else if (c == 'f') fa_tmp = fasta_read(getopt.arg, fa_lens);
|
352
|
+
else if (c == 's') sample_name = getopt.arg;
|
353
|
+
}
|
354
|
+
if (fa_tmp != null) fa = fa_tmp[0], fa_lens = fa_tmp[1], is_vcf = true;
|
355
|
+
|
356
|
+
if (args.length == getopt.ind) {
|
357
|
+
print("Usage: sort -k6,6 -k8,8n <with-cs.paf> | paftools.js call [options] -");
|
358
|
+
print("Options:");
|
359
|
+
print(" -l INT min alignment length to compute coverage ["+min_cov_len+"]");
|
360
|
+
print(" -L INT min alignment length to call variants ["+min_var_len+"]");
|
361
|
+
print(" -q INT min mapping quality ["+min_mapq+"]");
|
362
|
+
print(" -g INT short/long gap threshold (for statistics only) ["+gap_thres+"]");
|
363
|
+
print(" -f FILE reference sequences (enabling VCF output) [null]");
|
364
|
+
print(" -s NAME sample name in VCF header ["+sample_name+"]");
|
365
|
+
exit(1);
|
366
|
+
}
|
367
|
+
|
368
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
369
|
+
var buf = new Bytes();
|
370
|
+
var tot_len = 0, n_sub = [0, 0, 0], n_ins = [0, 0, 0, 0, 0], n_del = [0, 0, 0, 0, 0];
|
371
|
+
|
372
|
+
function print_vcf(o, fa)
|
373
|
+
{
|
374
|
+
var v = null;
|
375
|
+
if (o[3] != 1) return; // coverage is one; skip
|
376
|
+
if (o[5] == '-' && o[6] == '-') return;
|
377
|
+
if (o[5] != '-' && o[6] != '-') { // snp
|
378
|
+
v = [o[0], o[1] + 1, '.', o[5].toUpperCase(), o[6].toUpperCase()];
|
379
|
+
} else if (o[1] > 0) { // shouldn't happen in theory
|
380
|
+
if (fa[o[0]] == null) throw Error('sequence "' + o[0] + '" is absent from the reference FASTA');
|
381
|
+
if (o[1] >= fa[o[0]].length) throw Error('position ' + o[1] + ' exceeds the length of sequence "' + o[0] + '"');
|
382
|
+
var ref = String.fromCharCode(fa[o[0]][o[1]-1]).toUpperCase();
|
383
|
+
if (o[5] == '-') // insertion
|
384
|
+
v = [o[0], o[1], '.', ref, ref + o[6].toUpperCase()];
|
385
|
+
else // deletion
|
386
|
+
v = [o[0], o[1], '.', ref + o[5].toUpperCase(), ref];
|
387
|
+
}
|
388
|
+
v.push(o[4], '.', 'QNAME=' + o[7] + ';QSTART=' + (o[8]+1) + ';QSTRAND=' + (rev? '-' : '+'), 'GT', '1/1');
|
389
|
+
if (v == null) throw Error("unexpected variant: [" + o.join(",") + "]");
|
390
|
+
print(v.join("\t"));
|
391
|
+
}
|
392
|
+
|
393
|
+
function count_var(o)
|
394
|
+
{
|
395
|
+
if (o[3] > 1) return;
|
396
|
+
if (o[5] == '-' && o[6] == '-') return;
|
397
|
+
if (o[5] == '-') { // insertion
|
398
|
+
var l = o[6].length;
|
399
|
+
if (l == 1) ++n_ins[0];
|
400
|
+
else if (l == 2) ++n_ins[1];
|
401
|
+
else if (l < gap_thres) ++n_ins[2];
|
402
|
+
else if (l < gap_thres_long) ++n_ins[3];
|
403
|
+
else ++n_ins[4];
|
404
|
+
} else if (o[6] == '-') { // deletion
|
405
|
+
var l = o[5].length;
|
406
|
+
if (l == 1) ++n_del[0];
|
407
|
+
else if (l == 2) ++n_del[1];
|
408
|
+
else if (l < gap_thres) ++n_del[2];
|
409
|
+
else if (l < gap_thres_long) ++n_del[3];
|
410
|
+
else ++n_del[4];
|
411
|
+
} else {
|
412
|
+
++n_sub[0];
|
413
|
+
var s = (o[5] + o[6]).toLowerCase();
|
414
|
+
if (s == 'ag' || s == 'ga' || s == 'ct' || s == 'tc')
|
415
|
+
++n_sub[1];
|
416
|
+
else ++n_sub[2];
|
417
|
+
}
|
418
|
+
}
|
419
|
+
|
420
|
+
if (is_vcf) {
|
421
|
+
print('##fileformat=VCFv4.1');
|
422
|
+
for (var i = 0; i < fa_lens.length; ++i)
|
423
|
+
print('##contig=<ID=' + fa_lens[i][0] + ',length=' + fa_lens[i][1] + '>');
|
424
|
+
print('##INFO=<ID=QNAME,Number=1,Type=String,Description="Query name">');
|
425
|
+
print('##INFO=<ID=QSTART,Number=1,Type=Integer,Description="Query start">');
|
426
|
+
print('##INFO=<ID=QSTRAND,Number=1,Type=String,Description="Query strand">');
|
427
|
+
print('##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">');
|
428
|
+
print('#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT '+sample_name);
|
429
|
+
}
|
430
|
+
|
431
|
+
var a = [], out = [];
|
432
|
+
var c1_ctg = null, c1_start = 0, c1_end = 0, c1_counted = false, c1_len = 0;
|
433
|
+
while (file.readline(buf) >= 0) {
|
434
|
+
var line = buf.toString();
|
435
|
+
var m, t = line.split("\t", 12);
|
436
|
+
if (t.length < 12 || t[5] == '*') continue; // unmapped
|
437
|
+
for (var i = 6; i <= 11; ++i)
|
438
|
+
t[i] = parseInt(t[i]);
|
439
|
+
if (t[10] < min_cov_len || t[11] < min_mapq) continue;
|
440
|
+
//print(t[0], t[7], t[8], c1_start, c1_end);
|
441
|
+
for (var i = 1; i <= 3; ++i)
|
442
|
+
t[i] = parseInt(t[i]);
|
443
|
+
var ctg = t[5], x = t[7], end = t[8];
|
444
|
+
var query = t[0], rev = (t[4] == '-'), y = rev? t[3] : t[2];
|
445
|
+
// collect tags
|
446
|
+
var cs = null, tp = null, have_s1 = false, have_s2 = false;
|
447
|
+
while ((m = re_tag.exec(line)) != null) {
|
448
|
+
if (m[1] == 'cs:Z') cs = m[2];
|
449
|
+
else if (m[1] == 'tp:A') tp = m[2];
|
450
|
+
else if (m[1] == 's1:i') have_s1 = true;
|
451
|
+
else if (m[1] == 's2:i') have_s2 = true;
|
452
|
+
}
|
453
|
+
if (have_s1 && !have_s2) continue;
|
454
|
+
if (tp != null && (tp == 'S' || tp == 'i')) continue;
|
455
|
+
// compute regions covered by 1 contig
|
456
|
+
if (ctg != c1_ctg || x >= c1_end) {
|
457
|
+
if (c1_counted && c1_end > c1_start) {
|
458
|
+
c1_len += c1_end - c1_start;
|
459
|
+
if (!is_vcf) print('R', c1_ctg, c1_start, c1_end);
|
460
|
+
}
|
461
|
+
c1_ctg = ctg, c1_start = x, c1_end = end;
|
462
|
+
c1_counted = (t[10] >= min_var_len);
|
463
|
+
} else if (end > c1_end) { // overlap
|
464
|
+
if (c1_counted && x > c1_start) {
|
465
|
+
c1_len += x - c1_start;
|
466
|
+
if (!is_vcf) print('R', c1_ctg, c1_start, x);
|
467
|
+
}
|
468
|
+
c1_start = c1_end, c1_end = end;
|
469
|
+
c1_counted = (t[10] >= min_var_len);
|
470
|
+
} else if (end > c1_start) { // contained
|
471
|
+
if (c1_counted && x > c1_start) {
|
472
|
+
c1_len += x - c1_start;
|
473
|
+
if (!is_vcf) print('R', c1_ctg, c1_start, x);
|
474
|
+
}
|
475
|
+
c1_start = end;
|
476
|
+
} // else, the alignment precedes the cov1 region; do nothing
|
477
|
+
// output variants ahead of this alignment
|
478
|
+
while (out.length) {
|
479
|
+
if (out[0][0] != ctg || out[0][2] <= x) {
|
480
|
+
count_var(out[0]);
|
481
|
+
if (is_vcf) print_vcf(out[0], fa);
|
482
|
+
else print('V', out[0].join("\t"));
|
483
|
+
out.shift();
|
484
|
+
} else break;
|
485
|
+
}
|
486
|
+
// update coverage
|
487
|
+
for (var i = 0; i < out.length; ++i)
|
488
|
+
if (out[i][1] >= x && out[i][2] <= end)
|
489
|
+
++out[i][3];
|
490
|
+
// drop alignments that don't overlap with the current one
|
491
|
+
var k = 0;
|
492
|
+
for (var i = 0; i < a.length; ++i)
|
493
|
+
if (a[i][0] == ctg && a[i][2] > x)
|
494
|
+
a[k++] = a[i];
|
495
|
+
a.length = k;
|
496
|
+
// core loop
|
497
|
+
if (t[10] >= min_var_len) {
|
498
|
+
if (cs == null) continue; // no cs tag
|
499
|
+
var blen = 0, n_diff = 0;
|
500
|
+
tot_len += t[10];
|
501
|
+
while ((m = re_cs.exec(cs)) != null) {
|
502
|
+
var cov = 1;
|
503
|
+
if (m[1] == '*' || m[1] == '+' || m[1] == '-')
|
504
|
+
for (var i = 0; i < a.length; ++i)
|
505
|
+
if (a[i][2] > x) ++cov;
|
506
|
+
var qs, qe;
|
507
|
+
if (m[1] == '=' || m[1] == ':') {
|
508
|
+
var l = m[1] == '='? m[2].length : parseInt(m[2]);
|
509
|
+
if (rev) y -= l;
|
510
|
+
else y += l;
|
511
|
+
x += l, blen += l;
|
512
|
+
} else if (m[1] == '*') {
|
513
|
+
if (rev) qs = y - 1, qe = y, --y;
|
514
|
+
else qs = y, qe = y + 1, ++y;
|
515
|
+
var br = m[2].charAt(0), bq = m[2].charAt(1);
|
516
|
+
if (br != 'n' && bq != 'n') { // don't call a SNP if there is an ambiguous base
|
517
|
+
out.push([t[5], x, x+1, cov, t[11], br, bq, query, qs, qe, rev? '-' : '+']);
|
518
|
+
++n_diff;
|
519
|
+
}
|
520
|
+
++x, ++blen;
|
521
|
+
} else if (m[1] == '+') {
|
522
|
+
var l = m[2].length;
|
523
|
+
if (rev) qs = y - l, qe = y, y -= l;
|
524
|
+
else qs = y, qe = y + l, y += l;
|
525
|
+
out.push([t[5], x, x, cov, t[11], '-', m[2], query, qs, qe, rev? '-' : '+']);
|
526
|
+
++blen, ++n_diff;
|
527
|
+
} else if (m[1] == '-') {
|
528
|
+
var l = m[2].length;
|
529
|
+
out.push([t[5], x, x + l, cov, t[11], m[2], '-', query, y, y, rev? '-' : '+']);
|
530
|
+
x += l, ++blen, ++n_diff;
|
531
|
+
}
|
532
|
+
}
|
533
|
+
}
|
534
|
+
a.push([t[5], t[7], t[8]]);
|
535
|
+
}
|
536
|
+
if (c1_counted && c1_end > c1_start) {
|
537
|
+
c1_len += c1_end - c1_start;
|
538
|
+
if (!is_vcf) print('R', c1_ctg, c1_start, c1_end);
|
539
|
+
}
|
540
|
+
while (out.length) {
|
541
|
+
count_var(out[0]);
|
542
|
+
if (is_vcf) print_vcf(out[0], fa);
|
543
|
+
else print('V', out[0].join("\t"));
|
544
|
+
out.shift();
|
545
|
+
}
|
546
|
+
|
547
|
+
//warn(tot_len + " alignment columns considered in calling");
|
548
|
+
warn(c1_len + " reference bases covered by exactly one contig");
|
549
|
+
warn(n_sub[0] + " substitutions; ts/tv = " + (n_sub[1]/n_sub[2]).toFixed(3));
|
550
|
+
warn(n_del[0] + " 1bp deletions");
|
551
|
+
warn(n_ins[0] + " 1bp insertions");
|
552
|
+
warn(n_del[1] + " 2bp deletions");
|
553
|
+
warn(n_ins[1] + " 2bp insertions");
|
554
|
+
warn(n_del[2] + " [3,"+gap_thres+") deletions");
|
555
|
+
warn(n_ins[2] + " [3,"+gap_thres+") insertions");
|
556
|
+
warn(n_del[3] + " ["+gap_thres+","+gap_thres_long+") deletions");
|
557
|
+
warn(n_ins[3] + " ["+gap_thres+","+gap_thres_long+") insertions");
|
558
|
+
warn(n_del[4] + " >=" + gap_thres_long + " deletions");
|
559
|
+
warn(n_ins[4] + " >=" + gap_thres_long + " insertions");
|
560
|
+
|
561
|
+
buf.destroy();
|
562
|
+
file.close();
|
563
|
+
if (fa != null) fasta_free(fa);
|
564
|
+
}
|
565
|
+
|
566
|
+
function paf_asmstat(args)
|
567
|
+
{
|
568
|
+
var c, min_query_len = 0, min_seg_len = 10000, max_diff = 0.01, bp_flank_len = 0, bp_gap_len = 0;
|
569
|
+
while ((c = getopt(args, "l:d:b:g:q:")) != null) {
|
570
|
+
if (c == 'l') min_seg_len = parseInt(getopt.arg);
|
571
|
+
else if (c == 'd') max_diff = parseFloat(getopt.arg);
|
572
|
+
else if (c == 'b') bp_flank_len = parseInt(getopt.arg);
|
573
|
+
else if (c == 'g') bp_gap_len = parseInt(getopt.arg);
|
574
|
+
else if (c == 'q') min_query_len = parseInt(getopt.arg);
|
575
|
+
}
|
576
|
+
if (getopt.ind == args.length) {
|
577
|
+
print("Usage: paftools.js asmstat [options] <ref.fa.fai> <asm1.paf> [...]");
|
578
|
+
print("Options:");
|
579
|
+
print(" -q INT ignore query shorter than INT [0]");
|
580
|
+
print(" -l INT min alignment block length [" + min_seg_len + "]");
|
581
|
+
print(" -d FLOAT max gap-compressed sequence divergence [" + max_diff + "]");
|
582
|
+
exit(1);
|
583
|
+
}
|
584
|
+
|
585
|
+
var file, buf = new Bytes();
|
586
|
+
|
587
|
+
var ref_len = 0;
|
588
|
+
file = new File(args[getopt.ind]);
|
589
|
+
while (file.readline(buf) >= 0) {
|
590
|
+
var t = buf.toString().split("\t");
|
591
|
+
ref_len += parseInt(t[1]);
|
592
|
+
}
|
593
|
+
file.close();
|
594
|
+
|
595
|
+
function process_query(qblocks, qblock_len, bp, qi) {
|
596
|
+
qblocks.sort(function(a,b) { return a[0]-b[0]; });
|
597
|
+
var last_k = null, last_blen = null, st = -1, en = -1, qcov = 0;
|
598
|
+
for (var k = 0; k < qblocks.length; ++k) {
|
599
|
+
var blen = qblocks[k][1] - qblocks[k][0];
|
600
|
+
if (k > 0 && qblocks[k][0] < qblocks[k-1][1]) {
|
601
|
+
if (qblocks[k][1] < qblocks[k-1][1]) continue;
|
602
|
+
blen = qblocks[k][1] - qblocks[k-1][1];
|
603
|
+
}
|
604
|
+
qblock_len.push(blen);
|
605
|
+
if (qblocks[k][0] > en) {
|
606
|
+
qcov += en - st;
|
607
|
+
st = qblocks[k][0];
|
608
|
+
en = qblocks[k][1];
|
609
|
+
} else en = en > qblocks[k][1]? en : qblocks[k][1];
|
610
|
+
if (last_k != null) {
|
611
|
+
var gap = 1000000000;
|
612
|
+
if (qblocks[k][2] == qblocks[last_k][2] && qblocks[k][3] == qblocks[last_k][3]) { // same chr and strand
|
613
|
+
var g1 = qblocks[k][0] - qblocks[last_k][1];
|
614
|
+
var g2 = qblocks[k][2] == '+'? qblocks[k][4] - qblocks[last_k][5] : qblocks[last_k][4] - qblocks[k][5];
|
615
|
+
gap = g1 > g2? g1 - g2 : g2 - g1;
|
616
|
+
}
|
617
|
+
var min = blen < last_blen? blen : last_blen;
|
618
|
+
var flank = k == 0? min : blen;
|
619
|
+
bp.push([flank, gap]);
|
620
|
+
qi.bp.push([flank, gap]);
|
621
|
+
}
|
622
|
+
last_k = k, last_blen = blen;
|
623
|
+
}
|
624
|
+
qcov += en - st;
|
625
|
+
return qcov;
|
626
|
+
}
|
627
|
+
|
628
|
+
function N50(lens, tot, quantile) {
|
629
|
+
lens.sort(function(a,b) { return b - a; });
|
630
|
+
if (tot == null) {
|
631
|
+
tot = 0;
|
632
|
+
for (var k = 0; k < lens.length; ++k)
|
633
|
+
tot += lens[k];
|
634
|
+
}
|
635
|
+
var sum = 0;
|
636
|
+
for (var k = 0; k < lens.length; ++k) {
|
637
|
+
if (sum <= quantile * tot && sum + lens[k] > quantile * tot)
|
638
|
+
return lens[k];
|
639
|
+
sum += lens[k];
|
640
|
+
}
|
641
|
+
}
|
642
|
+
|
643
|
+
function AUN(lens, tot) {
|
644
|
+
lens.sort(function(a,b) { return b - a; });
|
645
|
+
if (tot == null) {
|
646
|
+
tot = 0;
|
647
|
+
for (var k = 0; k < lens.length; ++k)
|
648
|
+
tot += lens[k];
|
649
|
+
}
|
650
|
+
var x = 0, y = 0;
|
651
|
+
for (var k = 0; k < lens.length; ++k) {
|
652
|
+
var l = x + lens[k] <= tot? lens[k] : tot - x;
|
653
|
+
x += lens[k];
|
654
|
+
y += l * (l / tot);
|
655
|
+
if (x >= tot) break;
|
656
|
+
}
|
657
|
+
return y.toFixed(0);
|
658
|
+
}
|
659
|
+
|
660
|
+
function count_bp(bp, min_blen, min_gap) {
|
661
|
+
var n_bp = 0;
|
662
|
+
for (var k = 0; k < bp.length; ++k)
|
663
|
+
if (bp[k][0] >= min_blen && bp[k][1] >= min_gap)
|
664
|
+
++n_bp;
|
665
|
+
return n_bp;
|
666
|
+
}
|
667
|
+
|
668
|
+
function compute_diff(cigar, NM) {
|
669
|
+
var m, re = /(\d+)([MID])/g;
|
670
|
+
var n_M = 0, n_gapo = 0, n_gaps = 0;
|
671
|
+
while ((m = re.exec(cigar)) != null) {
|
672
|
+
var len = parseInt(m[1]);
|
673
|
+
if (m[2] == 'M') n_M += len;
|
674
|
+
else ++n_gapo, n_gaps += len;
|
675
|
+
}
|
676
|
+
if (NM < n_gaps) throw Error('NM is smaller the number of gaps');
|
677
|
+
return (NM - n_gaps + n_gapo) / (n_M + n_gapo);
|
678
|
+
}
|
679
|
+
|
680
|
+
var labels = ['Length', 'l_cov', 'Rcov', 'Rdup', 'Qcov', 'NG75', 'NG50', 'NGA50', 'AUNGA', '#breaks', 'bp(' + min_seg_len + ',0)', 'bp(' + min_seg_len + ',10k)'];
|
681
|
+
var rst = [];
|
682
|
+
for (var i = 0; i < labels.length; ++i)
|
683
|
+
rst[i] = [];
|
684
|
+
|
685
|
+
var n_asm = args.length - (getopt.ind + 1);
|
686
|
+
var header = ["Metric"];
|
687
|
+
for (var i = 0; i < n_asm; ++i) {
|
688
|
+
var n_breaks = 0, qcov = 0;
|
689
|
+
var fn = args[getopt.ind + 1 + i];
|
690
|
+
var label = fn.replace(/.paf(.gz)?$/, "");
|
691
|
+
header.push(label);
|
692
|
+
var ref_blocks = [], qblock_len = [], qblocks = [], bp = [];
|
693
|
+
var query = {}, qinfo = {};
|
694
|
+
var last_qname = null;
|
695
|
+
file = new File(fn);
|
696
|
+
while (file.readline(buf) >= 0) {
|
697
|
+
var m, line = buf.toString();
|
698
|
+
var t = line.split("\t");
|
699
|
+
t[1] = parseInt(t[1]);
|
700
|
+
if (t[1] < min_query_len) continue;
|
701
|
+
if (t.length < 2) continue;
|
702
|
+
query[t[0]] = t[1];
|
703
|
+
if (qinfo[t[0]] == null) qinfo[t[0]] = {};
|
704
|
+
qinfo[t[0]].len = t[1];
|
705
|
+
qinfo[t[0]].bp = [];
|
706
|
+
if (t.length < 9 || t[5] == "*") continue;
|
707
|
+
if (!/\ttp:A:[PI]/.test(line)) continue;
|
708
|
+
var cigar = (m = /\tcg:Z:(\S+)/.exec(line)) != null? m[1] : null;
|
709
|
+
var NM = (m = /\tNM:i:(\d+)/.exec(line)) != null? parseInt(m[1]) : null;
|
710
|
+
var diff = cigar != null && NM != null? compute_diff(cigar, NM) : 0;
|
711
|
+
t[2] = parseInt(t[2]);
|
712
|
+
t[3] = parseInt(t[3]);
|
713
|
+
t[7] = parseInt(t[7]);
|
714
|
+
t[8] = parseInt(t[8]);
|
715
|
+
if (t[0] == last_qname) ++n_breaks;
|
716
|
+
if (diff > max_diff) continue;
|
717
|
+
if (t[3] - t[2] < min_seg_len) continue;
|
718
|
+
if (t[0] != last_qname) {
|
719
|
+
if (last_qname != null)
|
720
|
+
qcov += process_query(qblocks, qblock_len, bp, qinfo[last_qname]);
|
721
|
+
qblocks = [];
|
722
|
+
last_qname = t[0];
|
723
|
+
}
|
724
|
+
ref_blocks.push([t[5], t[7], t[8]]);
|
725
|
+
qblocks.push([t[2], t[3], t[4], t[5], t[7], t[8]]);
|
726
|
+
}
|
727
|
+
if (last_qname != null)
|
728
|
+
qcov += process_query(qblocks, qblock_len, bp, qinfo[last_qname]);
|
729
|
+
file.close();
|
730
|
+
|
731
|
+
// compute NG50
|
732
|
+
var asm_len = 0, asm_lens = []
|
733
|
+
for (var ctg in query) {
|
734
|
+
asm_len += query[ctg];
|
735
|
+
asm_lens.push(query[ctg]);
|
736
|
+
}
|
737
|
+
rst[0][i] = asm_len;
|
738
|
+
rst[5][i] = N50(asm_lens, ref_len, 0.75);
|
739
|
+
rst[6][i] = N50(asm_lens, ref_len, 0.5);
|
740
|
+
|
741
|
+
// compute coverage
|
742
|
+
var l_cov = 0;
|
743
|
+
ref_blocks.sort(function(a, b) { return a[0] > b[0]? 1 : a[0] < b[0]? -1 : a[1] - b[1]; });
|
744
|
+
var last_ref = null, st = -1, en = -1;
|
745
|
+
for (var j = 0; j < ref_blocks.length; ++j) {
|
746
|
+
if (ref_blocks[j][0] != last_ref || ref_blocks[j][1] > en) {
|
747
|
+
l_cov += en - st;
|
748
|
+
last_ref = ref_blocks[j][0];
|
749
|
+
st = ref_blocks[j][1];
|
750
|
+
en = ref_blocks[j][2];
|
751
|
+
} else en = en > ref_blocks[j][2]? en : ref_blocks[j][2];
|
752
|
+
}
|
753
|
+
l_cov += en - st;
|
754
|
+
rst[1][i] = l_cov;
|
755
|
+
rst[2][i] = (100.0 * (l_cov / ref_len)).toFixed(2) + '%';
|
756
|
+
rst[4][i] = (100.0 * (qcov / asm_len)).toFixed(2) + '%';
|
757
|
+
|
758
|
+
// compute cov1 and cov2+ lengths; see paf_call() for details
|
759
|
+
var c1_ctg = null, c1_start = 0, c1_end = 0, c1_len = 0;
|
760
|
+
for (var j = 0; j < ref_blocks.length; ++j) {
|
761
|
+
if (ref_blocks[j][0] != c1_ctg || ref_blocks[j][1] >= c1_end) {
|
762
|
+
if (c1_end > c1_start)
|
763
|
+
c1_len += c1_end - c1_start;
|
764
|
+
c1_ctg = ref_blocks[j][0], c1_start = ref_blocks[j][1], c1_end = ref_blocks[j][2];
|
765
|
+
} else if (ref_blocks[j][2] > c1_end) { // overlap
|
766
|
+
if (ref_blocks[j][1] > c1_start)
|
767
|
+
c1_len += ref_blocks[j][1] - c1_start;
|
768
|
+
c1_start = c1_end, c1_end = ref_blocks[j][2];
|
769
|
+
} else if (ref_blocks[j][2] > c1_start) { // contained
|
770
|
+
if (ref_blocks[j][1] > c1_start)
|
771
|
+
c1_len += ref_blocks[j][1] - c1_start;
|
772
|
+
c1_start = ref_blocks[j][2];
|
773
|
+
}
|
774
|
+
//print(ref_blocks[j][0], ref_blocks[j][1], ref_blocks[j][2], c1_start, c1_end, c1_len);
|
775
|
+
}
|
776
|
+
if (c1_end > c1_start)
|
777
|
+
c1_len += c1_end - c1_start;
|
778
|
+
rst[3][i] = (100 * (l_cov - c1_len) / l_cov).toFixed(2) + '%';
|
779
|
+
|
780
|
+
// compute NGA50
|
781
|
+
rst[7][i] = N50(qblock_len, ref_len, 0.5);
|
782
|
+
|
783
|
+
// compute AUNGA
|
784
|
+
rst[8][i] = AUN(qblock_len, ref_len);
|
785
|
+
|
786
|
+
// compute break points
|
787
|
+
rst[9][i] = n_breaks;
|
788
|
+
rst[10][i] = count_bp(bp, 500, 0);
|
789
|
+
rst[11][i] = count_bp(bp, 500, 10000);
|
790
|
+
|
791
|
+
// nb-plot; NOT USED
|
792
|
+
/*
|
793
|
+
var qa = [];
|
794
|
+
for (var qn in qinfo)
|
795
|
+
qa.push([qinfo[qn].len, qinfo[qn].bp]);
|
796
|
+
qa = qa.sort(function(a, b) { return b[0] - a[0] });
|
797
|
+
var sum = 0, n_bp = 0, next_quantile = 0.1;
|
798
|
+
for (var j = 0; j < qa.length; ++j) {
|
799
|
+
sum += qa[j][0];
|
800
|
+
for (var k = 0; k < qa[j][1].length; ++k)
|
801
|
+
if (qa[j][1][k][0] >= bp_flank_len && qa[j][1][k][1] >= bp_gap_len)
|
802
|
+
++n_bp;
|
803
|
+
if (sum >= ref_len * next_quantile) {
|
804
|
+
print(label, Math.floor(next_quantile * 100 + .5), qa[j][0], (sum / n_bp).toFixed(0), n_bp);
|
805
|
+
next_quantile += 0.1;
|
806
|
+
if (next_quantile >= 1.0) break;
|
807
|
+
}
|
808
|
+
}
|
809
|
+
*/
|
810
|
+
}
|
811
|
+
buf.destroy();
|
812
|
+
|
813
|
+
if (bp_flank_len <= 0) {
|
814
|
+
print(header.join("\t"));
|
815
|
+
for (var i = 0; i < labels.length; ++i)
|
816
|
+
print(labels[i], rst[i].join("\t"));
|
817
|
+
}
|
818
|
+
}
|
819
|
+
|
820
|
+
function paf_asmgene(args)
|
821
|
+
{
|
822
|
+
var c, opt = { min_cov:0.99, min_iden:0.99 }, print_err = false, auto_only = false;
|
823
|
+
while ((c = getopt(args, "i:c:ea")) != null)
|
824
|
+
if (c == 'i') opt.min_iden = parseFloat(getopt.arg);
|
825
|
+
else if (c == 'c') opt.min_cov = parseFloat(getopt.arg);
|
826
|
+
else if (c == 'e') print_err = true;
|
827
|
+
else if (c == 'a') auto_only = true;
|
828
|
+
|
829
|
+
var n_fn = args.length - getopt.ind;
|
830
|
+
if (n_fn < 2) {
|
831
|
+
print("Usage: paftools.js asmgene [options] <ref-splice.paf> <asm-splice.paf> [...]");
|
832
|
+
print("Options:");
|
833
|
+
print(" -i FLOAT min identity [" + opt.min_iden + "]");
|
834
|
+
print(" -c FLOAT min coverage [" + opt.min_cov + "]");
|
835
|
+
print(" -a only evaluate genes mapped to the autosomes");
|
836
|
+
print(" -e print fragmented/missing genes");
|
837
|
+
exit(1);
|
838
|
+
}
|
839
|
+
|
840
|
+
function process_query(opt, a) {
|
841
|
+
var b = [], cnt = [0, 0, 0];
|
842
|
+
for (var j = 0; j < a.length; ++j) {
|
843
|
+
if (a[j][4] < a[j][5] * opt.min_iden)
|
844
|
+
continue;
|
845
|
+
b.push(a[j].slice(0));
|
846
|
+
}
|
847
|
+
if (b.length == 0) return cnt;
|
848
|
+
// count full
|
849
|
+
var n_full = 0;
|
850
|
+
for (var j = 0; j < b.length; ++j)
|
851
|
+
if (b[j][3] - b[j][2] >= b[j][1] * opt.min_cov)
|
852
|
+
++n_full;
|
853
|
+
cnt[0] = n_full;
|
854
|
+
// compute coverage
|
855
|
+
b = b.sort(function(x, y) { return x[2] - y[2] });
|
856
|
+
var l_cov = 0, st = b[0][2], en = b[0][3];
|
857
|
+
for (var j = 1; j < b.length; ++j) {
|
858
|
+
if (b[j][2] <= en)
|
859
|
+
en = b[j][3] > en? b[j][3] : en;
|
860
|
+
else l_cov += en - st;
|
861
|
+
}
|
862
|
+
l_cov += en - st;
|
863
|
+
cnt[1] = l_cov / b[0][1];
|
864
|
+
cnt[2] = b.length;
|
865
|
+
return cnt;
|
866
|
+
}
|
867
|
+
|
868
|
+
var buf = new Bytes();
|
869
|
+
var gene = {}, header = [], refpos = {};
|
870
|
+
for (var i = getopt.ind; i < args.length; ++i) {
|
871
|
+
var fn = args[i];
|
872
|
+
var label = fn.replace(/.paf(.gz)?$/, "");
|
873
|
+
header.push(label);
|
874
|
+
var file = new File(fn), a = [];
|
875
|
+
while (file.readline(buf) >= 0) {
|
876
|
+
var t = buf.toString().split("\t");
|
877
|
+
var ql = parseInt(t[1]), qs = parseInt(t[2]), qe = parseInt(t[3]), mlen = parseInt(t[9]), blen = parseInt(t[10]), mapq = parseInt(t[11]);
|
878
|
+
if (i == getopt.ind) refpos[t[0]] = [t[0], t[1], t[5], t[7], t[8]];
|
879
|
+
if (gene[t[0]] == null) gene[t[0]] = [];
|
880
|
+
if (a.length && t[0] != a[0][0]) {
|
881
|
+
gene[a[0][0]][i - getopt.ind] = process_query(opt, a);
|
882
|
+
a = [];
|
883
|
+
}
|
884
|
+
a.push([t[0], ql, qs, qe, mlen, blen]);
|
885
|
+
}
|
886
|
+
if (a.length)
|
887
|
+
gene[t[0]][i - getopt.ind] = process_query(opt, a);
|
888
|
+
file.close();
|
889
|
+
}
|
890
|
+
|
891
|
+
// select the longest genes (not optimal, but should be good enough)
|
892
|
+
var gene_list = [], gene_nr = {};
|
893
|
+
for (var g in refpos)
|
894
|
+
gene_list.push(refpos[g]);
|
895
|
+
gene_list = gene_list.sort(function(a, b) { return a[2] < b[2]? -1 : a[2] > b[2]? 1 : a[3] - b[3] });
|
896
|
+
var last = 0;
|
897
|
+
for (var j = 1; j < gene_list.length; ++j) {
|
898
|
+
if (gene_list[j][2] != gene_list[last][2] || gene_list[j][3] >= gene_list[last][4]) {
|
899
|
+
gene_nr[gene_list[last][0]] = 1;
|
900
|
+
last = j;
|
901
|
+
} else if (gene_list[j][1] > gene_list[last][1]) {
|
902
|
+
last = j;
|
903
|
+
}
|
904
|
+
}
|
905
|
+
gene_nr[gene_list[last][0]] = 1;
|
906
|
+
|
907
|
+
// count and print
|
908
|
+
var col1 = ["full_sgl", "full_dup", "frag", "part50+", "part10+", "part10-", "dup_cnt", "dup_sum"];
|
909
|
+
var rst = [];
|
910
|
+
for (var k = 0; k < col1.length; ++k) {
|
911
|
+
rst[k] = [];
|
912
|
+
for (var i = 0; i < n_fn; ++i)
|
913
|
+
rst[k][i] = 0;
|
914
|
+
}
|
915
|
+
for (var g in gene) { // count single-copy genes
|
916
|
+
if (gene[g][0] == null || gene[g][0][0] != 1) continue;
|
917
|
+
if (gene_nr[g] == null) continue;
|
918
|
+
if (auto_only && /^(chr)?[XY]$/.test(refpos[g][2])) continue;
|
919
|
+
for (var i = 0; i < n_fn; ++i) {
|
920
|
+
if (gene[g][i] == null) {
|
921
|
+
rst[5][i]++;
|
922
|
+
if (print_err) print('M', header[i], refpos[g].join("\t"));
|
923
|
+
} else if (gene[g][i][0] == 1) {
|
924
|
+
rst[0][i]++;
|
925
|
+
} else if (gene[g][i][0] > 1) {
|
926
|
+
rst[1][i]++;
|
927
|
+
if (print_err) print('D', header[i], refpos[g].join("\t"));
|
928
|
+
} else if (gene[g][i][1] >= opt.min_cov) {
|
929
|
+
rst[2][i]++;
|
930
|
+
if (print_err) print('F', header[i], refpos[g].join("\t"));
|
931
|
+
} else if (gene[g][i][1] >= 0.5) {
|
932
|
+
rst[3][i]++;
|
933
|
+
if (print_err) print('5', header[i], refpos[g].join("\t"));
|
934
|
+
} else if (gene[g][i][1] >= 0.1) {
|
935
|
+
rst[4][i]++;
|
936
|
+
if (print_err) print('1', header[i], refpos[g].join("\t"));
|
937
|
+
} else {
|
938
|
+
rst[5][i]++;
|
939
|
+
if (print_err) print('0', header[i], refpos[g].join("\t")); // TODO: reduce code duplicates...
|
940
|
+
}
|
941
|
+
}
|
942
|
+
}
|
943
|
+
for (var g in gene) { // count multi-copy genes
|
944
|
+
if (gene[g][0] == null || gene[g][0][0] <= 1) continue;
|
945
|
+
if (gene_nr[g] == null) continue;
|
946
|
+
if (auto_only && /^(chr)?[XY]$/.test(refpos[g][2])) continue;
|
947
|
+
for (var i = 0; i < n_fn; ++i) {
|
948
|
+
if (gene[g][i] != null) rst[7][i] += gene[g][i][0];
|
949
|
+
if (gene[g][i] != null && gene[g][i][0] > 1) {
|
950
|
+
rst[6][i]++;
|
951
|
+
} else if (print_err) {
|
952
|
+
print('d', header[i], gene[g][0][0], refpos[g].join("\t"));
|
953
|
+
}
|
954
|
+
}
|
955
|
+
}
|
956
|
+
print('H', 'Metric', header.join("\t"));
|
957
|
+
for (var k = 0; k < rst.length; ++k) {
|
958
|
+
print('X', col1[k], rst[k].join("\t"));
|
959
|
+
}
|
960
|
+
buf.destroy();
|
961
|
+
}
|
962
|
+
|
963
|
+
function paf_stat(args)
|
964
|
+
{
|
965
|
+
var c, gap_out_len = null, count_err = false;
|
966
|
+
while ((c = getopt(args, "cl:")) != null)
|
967
|
+
if (c == 'l') gap_out_len = parseInt(getopt.arg);
|
968
|
+
else if (c == 'c') count_err = true;
|
969
|
+
|
970
|
+
if (getopt.ind == args.length) {
|
971
|
+
print("Usage: paftools.js stat [-c] [-l gapOutLen] <in.sam>|<in.paf>");
|
972
|
+
exit(1);
|
973
|
+
}
|
974
|
+
|
975
|
+
var buf = new Bytes();
|
976
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
977
|
+
var re = /(\d+)([MIDSHNX=])/g;
|
978
|
+
|
979
|
+
var lineno = 0, n_pri = 0, n_2nd = 0, n_seq = 0, n_cigar_64k = 0, l_tot = 0, l_cov = 0;
|
980
|
+
var n_gap = [[0, 0, 0, 0, 0, 0], [0, 0, 0, 0, 0, 0]], n_sub = 0;
|
981
|
+
|
982
|
+
function cov_len(regs)
|
983
|
+
{
|
984
|
+
regs.sort(function(a,b) {return a[0]-b[0]});
|
985
|
+
var st = regs[0][0], en = regs[0][1], l = 0;
|
986
|
+
for (var i = 1; i < regs.length; ++i) {
|
987
|
+
if (regs[i][0] < en)
|
988
|
+
en = en > regs[i][1]? en : regs[i][1];
|
989
|
+
else l += en - st, st = regs[i][0], en = regs[i][1];
|
990
|
+
}
|
991
|
+
l += en - st;
|
992
|
+
return l;
|
993
|
+
}
|
994
|
+
|
995
|
+
var last = null, last_qlen = null, regs = [];
|
996
|
+
while (file.readline(buf) >= 0) {
|
997
|
+
var line = buf.toString();
|
998
|
+
++lineno;
|
999
|
+
if (line.charAt(0) != '@') {
|
1000
|
+
var t = line.split("\t", 12);
|
1001
|
+
var m, rs, cigar = null, is_pri = false, is_sam = false, is_rev = false, tname = null;
|
1002
|
+
var atlen = null, aqlen, qs, qe, mapq, ori_qlen, NM = null, nn = 0;
|
1003
|
+
if (t.length < 2) continue;
|
1004
|
+
if (t[4] == '+' || t[4] == '-' || t[4] == '*') { // PAF
|
1005
|
+
if (t[4] == '*') continue; // unmapped
|
1006
|
+
if (!/\ts2:i:\d+/.test(line)) {
|
1007
|
+
++n_2nd;
|
1008
|
+
continue;
|
1009
|
+
}
|
1010
|
+
if ((m = /\tNM:i:(\d+)/.exec(line)) != null)
|
1011
|
+
NM = parseInt(m[1]);
|
1012
|
+
if ((m = /\tnn:i:(\d+)/.exec(line)) != null)
|
1013
|
+
nn = parseInt(m[1]);
|
1014
|
+
if ((m = /\tcg:Z:(\S+)/.exec(line)) != null)
|
1015
|
+
cigar = m[1];
|
1016
|
+
if (cigar == null) {
|
1017
|
+
warn("WARNING: no CIGAR at line " + lineno);
|
1018
|
+
continue;
|
1019
|
+
}
|
1020
|
+
tname = t[5];
|
1021
|
+
qs = parseInt(t[2]), qe = parseInt(t[3]);
|
1022
|
+
aqlen = qe - qs;
|
1023
|
+
is_rev = t[4] == '+'? false : true;
|
1024
|
+
rs = parseInt(t[7]);
|
1025
|
+
atlen = parseInt(t[8]) - rs;
|
1026
|
+
mapq = parseInt(t[11]);
|
1027
|
+
ori_qlen = parseInt(t[1]);
|
1028
|
+
} else { // SAM
|
1029
|
+
var flag = parseInt(t[1]);
|
1030
|
+
if ((flag & 4) || t[2] == '*' || t[5] == '*') continue;
|
1031
|
+
if (flag & 0x100) {
|
1032
|
+
++n_2nd;
|
1033
|
+
continue;
|
1034
|
+
}
|
1035
|
+
if ((m = /\tNM:i:(\d+)/.exec(line)) != null)
|
1036
|
+
NM = parseInt(m[1]);
|
1037
|
+
if ((m = /\tnn:i:(\d+)/.exec(line)) != null)
|
1038
|
+
nn = parseInt(m[1]);
|
1039
|
+
cigar = t[5];
|
1040
|
+
tname = t[2];
|
1041
|
+
rs = parseInt(t[3]) - 1;
|
1042
|
+
mapq = parseInt(t[4]);
|
1043
|
+
aqlen = t[9].length;
|
1044
|
+
is_sam = true;
|
1045
|
+
is_rev = !!(flag&0x10);
|
1046
|
+
}
|
1047
|
+
++n_pri;
|
1048
|
+
if (last != t[0]) {
|
1049
|
+
if (last != null) {
|
1050
|
+
l_tot += last_qlen;
|
1051
|
+
l_cov += cov_len(regs);
|
1052
|
+
}
|
1053
|
+
regs = [];
|
1054
|
+
++n_seq, last = t[0];
|
1055
|
+
}
|
1056
|
+
var M = 0, tl = 0, ql = 0, clip = [0, 0], n_cigar = 0, sclip = 0;
|
1057
|
+
var n_gapo = 0, n_gap_all = 0, l_match = 0;
|
1058
|
+
while ((m = re.exec(cigar)) != null) {
|
1059
|
+
var l = parseInt(m[1]);
|
1060
|
+
++n_cigar;
|
1061
|
+
if (m[2] == 'M' || m[2] == '=' || m[2] == 'X') {
|
1062
|
+
tl += l, ql += l, M += l;
|
1063
|
+
l_match += l;
|
1064
|
+
} else if (m[2] == 'I' || m[2] == 'D') {
|
1065
|
+
var type;
|
1066
|
+
if (l < 50) type = 0;
|
1067
|
+
else if (l < 100) type = 1;
|
1068
|
+
else if (l < 300) type = 2;
|
1069
|
+
else if (l < 400) type = 3;
|
1070
|
+
else if (l < 1000) type = 4;
|
1071
|
+
else type = 5;
|
1072
|
+
if (m[2] == 'I') ql += l, ++n_gap[0][type];
|
1073
|
+
else tl += l, ++n_gap[1][type];
|
1074
|
+
if (gap_out_len != null && l >= gap_out_len)
|
1075
|
+
print(t[0], ql, is_rev? '-' : '+', tname, rs + tl, m[2], l);
|
1076
|
+
++n_gapo, n_gap_all += l;
|
1077
|
+
} else if (m[2] == 'N') {
|
1078
|
+
tl += l;
|
1079
|
+
} else if (m[2] == 'S') {
|
1080
|
+
clip[M == 0? 0 : 1] = l, sclip += l;
|
1081
|
+
} else if (m[2] == 'H') {
|
1082
|
+
clip[M == 0? 0 : 1] = l;
|
1083
|
+
}
|
1084
|
+
}
|
1085
|
+
if (NM != null) {
|
1086
|
+
var tmp = NM - n_gap_all - nn;
|
1087
|
+
if (tmp < 0 && nn == 0) warn("WARNING: NM is smaller than the number of gaps at line " + lineno + ": NM=" + NM + ", nn=" + nn + ", G=" + n_gap_all);
|
1088
|
+
if (tmp < 0) tmp = 0;
|
1089
|
+
n_sub += tmp;
|
1090
|
+
}
|
1091
|
+
if (n_cigar > 65535) ++n_cigar_64k;
|
1092
|
+
if (ql + sclip != aqlen)
|
1093
|
+
warn("WARNING: aligned query length is inconsistent with CIGAR at line " + lineno + " (" + (ql+sclip) + " != " + aqlen + ")");
|
1094
|
+
if (atlen != null && atlen != tl)
|
1095
|
+
warn("WARNING: aligned reference length is inconsistent with CIGAR at line " + lineno);
|
1096
|
+
if (is_sam) {
|
1097
|
+
qs = clip[is_rev? 1 : 0], qe = qs + ql;
|
1098
|
+
ori_qlen = clip[0] + ql + clip[1];
|
1099
|
+
}
|
1100
|
+
if (count_err && NM != null) {
|
1101
|
+
var n_mm = NM - n_gap_all;
|
1102
|
+
if (n_mm < 0) warn("WARNING: NM is smaller than the number of gaps at line " + lineno);
|
1103
|
+
if (n_mm < 0) n_mm = 0;
|
1104
|
+
print(t[0], ori_qlen, t[11], ori_qlen - (qe - qs), NM, l_match + n_gap_all, n_mm + n_gapo, l_match + n_gapo);
|
1105
|
+
}
|
1106
|
+
regs.push([qs, qe]);
|
1107
|
+
last_qlen = ori_qlen;
|
1108
|
+
}
|
1109
|
+
}
|
1110
|
+
if (regs.length) {
|
1111
|
+
l_tot += last_qlen;
|
1112
|
+
l_cov += cov_len(regs);
|
1113
|
+
}
|
1114
|
+
|
1115
|
+
file.close();
|
1116
|
+
buf.destroy();
|
1117
|
+
|
1118
|
+
if (gap_out_len == null && !count_err) {
|
1119
|
+
print("Number of mapped sequences: " + n_seq);
|
1120
|
+
print("Number of primary alignments: " + n_pri);
|
1121
|
+
print("Number of secondary alignments: " + n_2nd);
|
1122
|
+
print("Number of primary alignments with >65535 CIGAR operations: " + n_cigar_64k);
|
1123
|
+
print("Number of bases in mapped sequences: " + l_tot);
|
1124
|
+
print("Number of mapped bases: " + l_cov);
|
1125
|
+
print("Number of substitutions: " + n_sub);
|
1126
|
+
print("Number of insertions in [0,50): " + n_gap[0][0]);
|
1127
|
+
print("Number of insertions in [50,100): " + n_gap[0][1]);
|
1128
|
+
print("Number of insertions in [100,300): " + n_gap[0][2]);
|
1129
|
+
print("Number of insertions in [300,400): " + n_gap[0][3]);
|
1130
|
+
print("Number of insertions in [400,1000): " + n_gap[0][4]);
|
1131
|
+
print("Number of insertions in [1000,inf): " + n_gap[0][5]);
|
1132
|
+
print("Number of deletions in [0,50): " + n_gap[1][0]);
|
1133
|
+
print("Number of deletions in [50,100): " + n_gap[1][1]);
|
1134
|
+
print("Number of deletions in [100,300): " + n_gap[1][2]);
|
1135
|
+
print("Number of deletions in [300,400): " + n_gap[1][3]);
|
1136
|
+
print("Number of deletions in [400,1000): " + n_gap[1][4]);
|
1137
|
+
print("Number of deletions in [1000,inf): " + n_gap[1][5]);
|
1138
|
+
}
|
1139
|
+
}
|
1140
|
+
|
1141
|
+
function paf_bedcov(args)
|
1142
|
+
{
|
1143
|
+
function read_bed(fn, to_merge, to_dedup)
|
1144
|
+
{
|
1145
|
+
var file = new File(fn);
|
1146
|
+
var buf = new Bytes();
|
1147
|
+
var h = {};
|
1148
|
+
while (file.readline(buf) >= 0) {
|
1149
|
+
var t = buf.toString().split("\t");
|
1150
|
+
if (h[t[0]] == null)
|
1151
|
+
h[t[0]] = [];
|
1152
|
+
var bst = parseInt(t[1]);
|
1153
|
+
var ben = parseInt(t[2]);
|
1154
|
+
if (t.length >= 12 && /^\d+$/.test(t[9])) {
|
1155
|
+
t[9] = parseInt(t[9]);
|
1156
|
+
var sz = t[10].split(",");
|
1157
|
+
var st = t[11].split(",");
|
1158
|
+
for (var i = 0; i < t[9]; ++i) {
|
1159
|
+
st[i] = parseInt(st[i]);
|
1160
|
+
sz[i] = parseInt(sz[i]);
|
1161
|
+
h[t[0]].push([bst + st[i], bst + st[i] + sz[i], 0, 0, 0]);
|
1162
|
+
}
|
1163
|
+
} else {
|
1164
|
+
h[t[0]].push([bst, ben, 0, 0, 0]);
|
1165
|
+
}
|
1166
|
+
}
|
1167
|
+
buf.destroy();
|
1168
|
+
file.close();
|
1169
|
+
for (var chr in h) {
|
1170
|
+
if (to_merge) Interval.merge(h[chr], false);
|
1171
|
+
else if (to_dedup) Interval.dedup(h[chr], false);
|
1172
|
+
else Interval.sort(h[chr]);
|
1173
|
+
Interval.index_end(h[chr]);
|
1174
|
+
}
|
1175
|
+
return h;
|
1176
|
+
}
|
1177
|
+
|
1178
|
+
var c, print_len = false, to_merge = true, to_dedup = false, fn_excl = null;
|
1179
|
+
while ((c = getopt(args, "pde:")) != null) {
|
1180
|
+
if (c == 'p') print_len = true;
|
1181
|
+
else if (c == 'd') to_dedup = true, to_merge = false;
|
1182
|
+
else if (c == 'e') fn_excl = getopt.arg;
|
1183
|
+
}
|
1184
|
+
|
1185
|
+
if (args.length - getopt.ind < 2) {
|
1186
|
+
print("Usage: paftools.js bedcov [options] <regions.bed> <target.bed>");
|
1187
|
+
print("Options:");
|
1188
|
+
print(" -e FILE exclude target regions (2nd file) overlapping BED FILE []");
|
1189
|
+
print(" -p print number of covered bases for each target");
|
1190
|
+
exit(1);
|
1191
|
+
}
|
1192
|
+
|
1193
|
+
var excl = fn_excl != null? read_bed(fn_excl, true, false) : null;
|
1194
|
+
var target = read_bed(args[getopt.ind], to_merge, to_dedup);
|
1195
|
+
|
1196
|
+
var file, buf = new Bytes();
|
1197
|
+
var tot_len = 0, hit_len = 0;
|
1198
|
+
file = args[getopt.ind+1] != '-'? new File(args[getopt.ind+1]) : new File();
|
1199
|
+
while (file.readline(buf) >= 0) {
|
1200
|
+
var t = buf.toString().split("\t");
|
1201
|
+
var a = [];
|
1202
|
+
var bst = parseInt(t[1]);
|
1203
|
+
var ben = parseInt(t[2]);
|
1204
|
+
if (t.length >= 12 && /^\d+$/.test(t[9])) { // BED12
|
1205
|
+
t[9] = parseInt(t[9]);
|
1206
|
+
var sz = t[10].split(",");
|
1207
|
+
var st = t[11].split(",");
|
1208
|
+
for (var i = 0; i < t[9]; ++i) {
|
1209
|
+
st[i] = parseInt(st[i]);
|
1210
|
+
sz[i] = parseInt(sz[i]);
|
1211
|
+
a.push([bst + st[i], bst + st[i] + sz[i], false]);
|
1212
|
+
}
|
1213
|
+
} else a.push([bst, ben, false]); // 3-column BED
|
1214
|
+
var feat_len = 0;
|
1215
|
+
for (var i = 0; i < a.length; ++i) {
|
1216
|
+
if (excl != null && excl[t[0]] != null) {
|
1217
|
+
var oe = Interval.find_ovlp(excl[t[0]], a[i][0], a[i][1]);
|
1218
|
+
if (oe.length > 0)
|
1219
|
+
continue;
|
1220
|
+
}
|
1221
|
+
a[i][2] = true;
|
1222
|
+
feat_len += a[i][1] - a[i][0];
|
1223
|
+
}
|
1224
|
+
tot_len += feat_len;
|
1225
|
+
if (target[t[0]] == null) continue;
|
1226
|
+
var b = [];
|
1227
|
+
for (var i = 0; i < a.length; ++i) {
|
1228
|
+
if (!a[i][2]) continue;
|
1229
|
+
var o = Interval.find_ovlp(target[t[0]], a[i][0], a[i][1]);
|
1230
|
+
for (var j = 0; j < o.length; ++j) {
|
1231
|
+
var max_st = o[j][0] > a[i][0]? o[j][0] : a[i][0];
|
1232
|
+
var min_en = o[j][1] < a[i][1]? o[j][1] : a[i][1];
|
1233
|
+
b.push([max_st, min_en]);
|
1234
|
+
o[j][2] += min_en - max_st;
|
1235
|
+
++o[j][3];
|
1236
|
+
if (max_st == o[j][0] && min_en == o[j][1])
|
1237
|
+
++o[j][4];
|
1238
|
+
}
|
1239
|
+
}
|
1240
|
+
// find the length covered
|
1241
|
+
var feat_hit_len = 0;
|
1242
|
+
if (b.length > 0) {
|
1243
|
+
b.sort(function(a,b) {return a[0]-b[0]});
|
1244
|
+
var st = b[0][0], en = b[0][1];
|
1245
|
+
for (var i = 1; i < b.length; ++i) {
|
1246
|
+
if (b[i][0] <= en) en = en > b[i][1]? en : b[i][1];
|
1247
|
+
else feat_hit_len += en - st, st = b[i][0], en = b[i][1];
|
1248
|
+
}
|
1249
|
+
feat_hit_len += en - st;
|
1250
|
+
}
|
1251
|
+
hit_len += feat_hit_len;
|
1252
|
+
if (print_len) print('F', t.slice(0, 4).join("\t"), feat_len, feat_hit_len);
|
1253
|
+
}
|
1254
|
+
file.close();
|
1255
|
+
|
1256
|
+
buf.destroy();
|
1257
|
+
|
1258
|
+
warn("# target bases: " + tot_len);
|
1259
|
+
warn("# target bases overlapping regions: " + hit_len + ' (' + (100.0 * hit_len / tot_len).toFixed(2) + '%)');
|
1260
|
+
}
|
1261
|
+
|
1262
|
+
function paf_vcfpair(args)
|
1263
|
+
{
|
1264
|
+
var c, is_male = false, sample = 'syndip', hgver = null;
|
1265
|
+
var PAR = { '37':[[0, 2699520], [154931043, 155260560]] };
|
1266
|
+
while ((c = getopt(args, "ms:g:")) != null) {
|
1267
|
+
if (c == 'm') is_male = true;
|
1268
|
+
else if (c == 's') sample = getopt.arg;
|
1269
|
+
else if (c == 'g') hgver = getopt.arg;
|
1270
|
+
}
|
1271
|
+
if (is_male && (hgver == null || PAR[hgver] == null))
|
1272
|
+
throw("for a male, -g must be specified to properly handle PARs on chrX");
|
1273
|
+
|
1274
|
+
if (getopt.ind == args.length) {
|
1275
|
+
print("Usage: paftools.js vcfpair [options] <in.pair.vcf>");
|
1276
|
+
print("Options:");
|
1277
|
+
print(" -m the sample is male");
|
1278
|
+
print(" -g STR human genome version '37' []");
|
1279
|
+
print(" -s STR sample name [" + sample + "]");
|
1280
|
+
exit(1);
|
1281
|
+
}
|
1282
|
+
|
1283
|
+
var re_ctg = is_male? /^(chr)?([0-9]+|X|Y)$/ : /^(chr)?([0-9]+|X)$/;
|
1284
|
+
var label = ['1', '2'];
|
1285
|
+
var buf = new Bytes();
|
1286
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
1287
|
+
while (file.readline(buf) >= 0) {
|
1288
|
+
var m, line = buf.toString();
|
1289
|
+
if (line.charAt(0) == '#') {
|
1290
|
+
if (/^##(source|reference)=/.test(line)) continue;
|
1291
|
+
if ((m = /^##contig=.*ID=([^\s,]+)/.exec(line)) != null) {
|
1292
|
+
if (!re_ctg.test(m[1])) continue;
|
1293
|
+
} else if (/^#CHROM/.test(line)) {
|
1294
|
+
var t = line.split("\t");
|
1295
|
+
--t.length;
|
1296
|
+
t[t.length-1] = sample;
|
1297
|
+
line = t.join("\t");
|
1298
|
+
print('##FILTER=<ID=HET1,Description="Heterozygous in the first haplotype">');
|
1299
|
+
print('##FILTER=<ID=HET2,Description="Heterozygous in the second haplotype">');
|
1300
|
+
print('##FILTER=<ID=GAP1,Description="Uncalled in the first haplotype">');
|
1301
|
+
print('##FILTER=<ID=GAP2,Description="Uncalled in the second haplotype">');
|
1302
|
+
}
|
1303
|
+
print(line);
|
1304
|
+
continue;
|
1305
|
+
}
|
1306
|
+
var t = line.split("\t");
|
1307
|
+
if (!re_ctg.test(t[0])) continue;
|
1308
|
+
var GT = null, AD = null, FILTER = [], HT = [null, null];
|
1309
|
+
for (var i = 0; i < 2; ++i) {
|
1310
|
+
if ((m = /^(\.|[0-9]+)\/(\.|[0-9]+):(\S+)/.exec(t[9+i])) == null) {
|
1311
|
+
warn(line);
|
1312
|
+
throw Error("malformatted VCF");
|
1313
|
+
}
|
1314
|
+
var s = m[3].split(",");
|
1315
|
+
if (AD == null) {
|
1316
|
+
AD = [];
|
1317
|
+
for (var j = 0; j < s.length; ++j)
|
1318
|
+
AD[j] = 0;
|
1319
|
+
}
|
1320
|
+
for (var j = 0; j < s.length; ++j)
|
1321
|
+
AD[j] += parseInt(s[j]);
|
1322
|
+
if (m[1] == '.') {
|
1323
|
+
FILTER.push('GAP' + label[i]);
|
1324
|
+
HT[i] = '.';
|
1325
|
+
} else if (m[1] != m[2]) {
|
1326
|
+
FILTER.push('HET' + label[i]);
|
1327
|
+
HT[i] = '.';
|
1328
|
+
} else HT[i] = m[1];
|
1329
|
+
}
|
1330
|
+
--t.length;
|
1331
|
+
// test if this is in a haploid region
|
1332
|
+
var hap = 0, st = parseInt(t[1]), en = st + t[3].length;
|
1333
|
+
if (is_male) {
|
1334
|
+
if (/^(chr)?X/.test(t[0])) {
|
1335
|
+
if (hgver != null && PAR[hgver] != null) {
|
1336
|
+
var r = PAR[hgver], in_par = false;
|
1337
|
+
for (var i = 0; i < r.length; ++i)
|
1338
|
+
if (r[i][0] <= st && en <= r[i][1])
|
1339
|
+
in_par = true;
|
1340
|
+
hap = in_par? 0 : 2;
|
1341
|
+
}
|
1342
|
+
} else if (/^(chr)?Y/.test(t[0])) {
|
1343
|
+
hap = 1;
|
1344
|
+
}
|
1345
|
+
}
|
1346
|
+
// special treatment for haploid regions
|
1347
|
+
if (hap > 0 && FILTER.length == 1) {
|
1348
|
+
if ((hap == 2 && FILTER[0] == "GAP1") || (hap == 1 && FILTER[0] == "GAP2"))
|
1349
|
+
FILTER.length = 0;
|
1350
|
+
}
|
1351
|
+
// update VCF
|
1352
|
+
t[5] = 30; // fake QUAL
|
1353
|
+
t[6] = FILTER.length? FILTER.join(";") : ".";
|
1354
|
+
t[9] = HT.join("|") + ":" + AD.join(",");
|
1355
|
+
print(t.join("\t"));
|
1356
|
+
}
|
1357
|
+
file.close();
|
1358
|
+
buf.destroy();
|
1359
|
+
}
|
1360
|
+
|
1361
|
+
/**********************
|
1362
|
+
* Conversion related *
|
1363
|
+
**********************/
|
1364
|
+
|
1365
|
+
function paf_view(args)
|
1366
|
+
{
|
1367
|
+
var c, line_len = 80, fmt = "aln";
|
1368
|
+
while ((c = getopt(args, "f:l:")) != null) {
|
1369
|
+
if (c == 'f') {
|
1370
|
+
fmt = getopt.arg;
|
1371
|
+
if (fmt != "aln" && fmt != "lastz-cigar" && fmt != "maf")
|
1372
|
+
throw Error("format must be one of aln, lastz-cigar and maf");
|
1373
|
+
} else if (c == 'l') line_len = parseInt(getopt.arg);
|
1374
|
+
}
|
1375
|
+
if (line_len == 0) line_len = 0x7fffffff;
|
1376
|
+
|
1377
|
+
if (getopt.ind == args.length) {
|
1378
|
+
print("Usage: paftools.js view [options] <in.paf>");
|
1379
|
+
print("Options:");
|
1380
|
+
print(" -f STR output format: aln (BLAST-like), maf or lastz-cigar [aln]");
|
1381
|
+
print(" -l INT line length in BLAST-like output [80]");
|
1382
|
+
exit(1);
|
1383
|
+
}
|
1384
|
+
|
1385
|
+
function padding_str(x, len, right)
|
1386
|
+
{
|
1387
|
+
var s = x.toString();
|
1388
|
+
if (s.length < len) {
|
1389
|
+
if (right) s += Array(len - s.length + 1).join(" ");
|
1390
|
+
else s = Array(len - s.length + 1).join(" ") + s;
|
1391
|
+
}
|
1392
|
+
return s;
|
1393
|
+
}
|
1394
|
+
|
1395
|
+
function update_aln(s_ref, s_qry, s_mid, type, seq, slen)
|
1396
|
+
{
|
1397
|
+
var l = type == '*'? 1 : seq.length;
|
1398
|
+
if (type == '=' || type == ':') {
|
1399
|
+
s_ref.set(seq);
|
1400
|
+
s_qry.set(seq);
|
1401
|
+
s_mid.set(Array(l+1).join("|"));
|
1402
|
+
slen[0] += l, slen[1] += l;
|
1403
|
+
} else if (type == '*') {
|
1404
|
+
s_ref.set(seq.charAt(0));
|
1405
|
+
s_qry.set(seq.charAt(1));
|
1406
|
+
s_mid.set(' ');
|
1407
|
+
slen[0] += 1, slen[1] += 1;
|
1408
|
+
} else if (type == '+') {
|
1409
|
+
s_ref.set(Array(l+1).join("-"));
|
1410
|
+
s_qry.set(seq);
|
1411
|
+
s_mid.set(Array(l+1).join(" "));
|
1412
|
+
slen[1] += l;
|
1413
|
+
} else if (type == '-') {
|
1414
|
+
s_ref.set(seq);
|
1415
|
+
s_qry.set(Array(l+1).join("-"));
|
1416
|
+
s_mid.set(Array(l+1).join(" "));
|
1417
|
+
slen[0] += l;
|
1418
|
+
}
|
1419
|
+
}
|
1420
|
+
|
1421
|
+
function print_aln(rs, qs, strand, slen, elen, s_ref, s_qry, s_mid)
|
1422
|
+
{
|
1423
|
+
print(["Ref+:", padding_str(rs + slen[0] + 1, 10, false), s_ref.toString(), padding_str(rs + elen[0], 10, true)].join(" "));
|
1424
|
+
print(" " + s_mid.toString());
|
1425
|
+
var st, en;
|
1426
|
+
if (strand == '+') st = qs + slen[1] + 1, en = qs + elen[1];
|
1427
|
+
else st = qs - slen[1], en = qs - elen[1] + 1;
|
1428
|
+
print(["Qry" + strand + ":", padding_str(st, 10, false), s_qry.toString(), padding_str(en, 10, true)].join(" "));
|
1429
|
+
}
|
1430
|
+
|
1431
|
+
var s_ref = new Bytes(), s_qry = new Bytes(), s_mid = new Bytes(); // these are used to show padded alignment
|
1432
|
+
var re_cs = /([:=\-\+\*])(\d+|[A-Za-z]+)/g;
|
1433
|
+
var re_cg = /(\d+)([MIDNSHP=X])/g;
|
1434
|
+
|
1435
|
+
var buf = new Bytes();
|
1436
|
+
var file = args[getopt.ind] == "-"? new File() : new File(args[getopt.ind]);
|
1437
|
+
var lineno = 0;
|
1438
|
+
if (fmt == "maf") print("##maf version=1\n");
|
1439
|
+
while (file.readline(buf) >= 0) {
|
1440
|
+
var m, line = buf.toString();
|
1441
|
+
var t = line.split("\t", 12);
|
1442
|
+
++lineno;
|
1443
|
+
s_ref.length = s_qry.length = s_mid.length = 0;
|
1444
|
+
var slen = [0, 0], elen = [0, 0];
|
1445
|
+
if (fmt == "lastz-cigar") { // LASTZ-cigar output
|
1446
|
+
var cg = (m = /\tcg:Z:(\S+)/.exec(line)) != null? m[1] : null;
|
1447
|
+
if (cg == null) {
|
1448
|
+
warn("WARNING: converting to LASTZ-cigar format requires the 'cg' tag, which is absent on line " + lineno);
|
1449
|
+
continue;
|
1450
|
+
}
|
1451
|
+
var score = (m = /\tAS:i:(\d+)/.exec(line)) != null? m[1] : 0;
|
1452
|
+
var out = ['cigar:', t[0], t[2], t[3], t[4], t[5], t[7], t[8], '+', score];
|
1453
|
+
while ((m = re_cg.exec(cg)) != null)
|
1454
|
+
out.push(m[2], m[1]);
|
1455
|
+
print(out.join(" "));
|
1456
|
+
} else if (fmt == "maf") { // MAF output
|
1457
|
+
var cs = (m = /\tcs:Z:(\S+)/.exec(line)) != null? m[1] : null;
|
1458
|
+
if (cs == null) {
|
1459
|
+
warn("WARNING: converting to MAF requires the 'cs' tag, which is absent on line " + lineno);
|
1460
|
+
continue;
|
1461
|
+
}
|
1462
|
+
while ((m = re_cs.exec(cs)) != null) {
|
1463
|
+
if (m[1] == ':')
|
1464
|
+
throw Error("converting to MAF only works with 'minimap2 --cs=long'");
|
1465
|
+
update_aln(s_ref, s_qry, s_mid, m[1], m[2], elen);
|
1466
|
+
}
|
1467
|
+
var score = (m = /\tAS:i:(\d+)/.exec(line)) != null? parseInt(m[1]) : 0;
|
1468
|
+
var len = t[0].length > t[5].length? t[0].length : t[5].length;
|
1469
|
+
print("a " + score);
|
1470
|
+
print(["s", padding_str(t[5], len, true), padding_str(t[7], 10, false), padding_str(parseInt(t[8]) - parseInt(t[7]), 10, false),
|
1471
|
+
"+", padding_str(t[6], 10, false), s_ref.toString()].join(" "));
|
1472
|
+
var qs, qe, ql = parseInt(t[1]);
|
1473
|
+
if (t[4] == '+') {
|
1474
|
+
qs = parseInt(t[2]);
|
1475
|
+
qe = parseInt(t[3]);
|
1476
|
+
} else {
|
1477
|
+
qs = ql - parseInt(t[3]);
|
1478
|
+
qe = ql - parseInt(t[2]);
|
1479
|
+
}
|
1480
|
+
print(["s", padding_str(t[0], len, true), padding_str(qs, 10, false), padding_str(qe - qs, 10, false),
|
1481
|
+
t[4], padding_str(ql, 10, false), s_qry.toString()].join(" "));
|
1482
|
+
print("");
|
1483
|
+
} else { // BLAST-like output
|
1484
|
+
var cs = (m = /\tcs:Z:(\S+)/.exec(line)) != null? m[1] : null;
|
1485
|
+
if (cs == null) {
|
1486
|
+
warn("WARNING: converting to BLAST-like alignment requires the 'cs' tag, which is absent on line " + lineno);
|
1487
|
+
continue;
|
1488
|
+
}
|
1489
|
+
var n_mm = 0, n_oi = 0, n_od = 0, n_ei = 0, n_ed = 0;
|
1490
|
+
while ((m = re_cs.exec(cs)) != null) {
|
1491
|
+
if (m[1] == '*') ++n_mm;
|
1492
|
+
else if (m[1] == '+') ++n_oi, n_ei += m[2].length;
|
1493
|
+
else if (m[1] == '-') ++n_od, n_ed += m[2].length;
|
1494
|
+
}
|
1495
|
+
line = line.replace(/\tc[sg]:Z:\S+/g, ""); // get rid of cs or cg tags
|
1496
|
+
print('>' + line + "\tmm:i:"+n_mm + "\toi:i:"+n_oi + "\tei:i:"+n_ei + "\tod:i:"+n_od + "\ted:i:"+n_ed);
|
1497
|
+
var rs = parseInt(t[7]), qs = t[4] == '+'? parseInt(t[2]) : parseInt(t[3]);
|
1498
|
+
var n_blocks = 0;
|
1499
|
+
while ((m = re_cs.exec(cs)) != null) {
|
1500
|
+
if (m[1] == ':') m[2] = Array(parseInt(m[2]) + 1).join("=");
|
1501
|
+
var start = 0, rest = m[1] == '*'? 1 : m[2].length;
|
1502
|
+
while (rest > 0) {
|
1503
|
+
var l_proc;
|
1504
|
+
if (s_ref.length + rest >= line_len) {
|
1505
|
+
l_proc = line_len - s_ref.length;
|
1506
|
+
update_aln(s_ref, s_qry, s_mid, m[1], m[1] == '*'? m[2] : m[2].substr(start, l_proc), elen);
|
1507
|
+
if (n_blocks > 0) print("");
|
1508
|
+
print_aln(rs, qs, t[4], slen, elen, s_ref, s_qry, s_mid);
|
1509
|
+
++n_blocks;
|
1510
|
+
s_ref.length = s_qry.length = s_mid.length = 0;
|
1511
|
+
slen[0] = elen[0], slen[1] = elen[1];
|
1512
|
+
} else {
|
1513
|
+
l_proc = rest;
|
1514
|
+
update_aln(s_ref, s_qry, s_mid, m[1], m[1] == '*'? m[2] : m[2].substr(start, l_proc), elen);
|
1515
|
+
}
|
1516
|
+
rest -= l_proc, start += l_proc;
|
1517
|
+
}
|
1518
|
+
}
|
1519
|
+
if (s_ref.length > 0) {
|
1520
|
+
if (n_blocks > 0) print("");
|
1521
|
+
print_aln(rs, qs, t[4], slen, elen, s_ref, s_qry, s_mid);
|
1522
|
+
++n_blocks;
|
1523
|
+
}
|
1524
|
+
print("//");
|
1525
|
+
}
|
1526
|
+
}
|
1527
|
+
file.close();
|
1528
|
+
buf.destroy();
|
1529
|
+
|
1530
|
+
s_ref.destroy(); s_qry.destroy(); s_mid.destroy();
|
1531
|
+
}
|
1532
|
+
|
1533
|
+
function paf_gff2bed(args)
|
1534
|
+
{
|
1535
|
+
var c, fn_ucsc_fai = null, is_short = false, keep_gff = false, print_junc = false, output_gene = false;
|
1536
|
+
while ((c = getopt(args, "u:sgjG")) != null) {
|
1537
|
+
if (c == 'u') fn_ucsc_fai = getopt.arg;
|
1538
|
+
else if (c == 's') is_short = true;
|
1539
|
+
else if (c == 'g') keep_gff = true;
|
1540
|
+
else if (c == 'j') print_junc = true;
|
1541
|
+
else if (c == 'G') output_gene = true;
|
1542
|
+
}
|
1543
|
+
|
1544
|
+
if (getopt.ind == args.length) {
|
1545
|
+
print("Usage: paftools.js gff2bed [options] <in.gff>");
|
1546
|
+
print("Options:");
|
1547
|
+
print(" -j Output junction BED");
|
1548
|
+
print(" -s Print names in the short form");
|
1549
|
+
print(" -u FILE hg38.fa.fai for chr name conversion");
|
1550
|
+
print(" -g Output GFF (used with -u)");
|
1551
|
+
exit(1);
|
1552
|
+
}
|
1553
|
+
|
1554
|
+
var ens2ucsc = {};
|
1555
|
+
if (fn_ucsc_fai != null) {
|
1556
|
+
var buf = new Bytes();
|
1557
|
+
var file = new File(fn_ucsc_fai);
|
1558
|
+
while (file.readline(buf) >= 0) {
|
1559
|
+
var t = buf.toString().split("\t");
|
1560
|
+
var s = t[0];
|
1561
|
+
if (/_(random|alt|decoy)$/.test(s)) {
|
1562
|
+
s = s.replace(/_(random|alt|decoy)$/, '');
|
1563
|
+
s = s.replace(/^chr\S+_/, '');
|
1564
|
+
} else {
|
1565
|
+
s = s.replace(/^chrUn_/, '');
|
1566
|
+
}
|
1567
|
+
s = s.replace(/v(\d+)/, ".$1");
|
1568
|
+
if (s != t[0]) ens2ucsc[s] = t[0];
|
1569
|
+
}
|
1570
|
+
file.close();
|
1571
|
+
buf.destroy();
|
1572
|
+
}
|
1573
|
+
|
1574
|
+
var colors = {
|
1575
|
+
'protein_coding':'0,128,255',
|
1576
|
+
'mRNA':'0,128,255',
|
1577
|
+
'lincRNA':'0,192,0',
|
1578
|
+
'snRNA':'0,192,0',
|
1579
|
+
'miRNA':'0,192,0',
|
1580
|
+
'misc_RNA':'0,192,0'
|
1581
|
+
};
|
1582
|
+
|
1583
|
+
function print_bed12(exons, cds_st, cds_en, is_short, print_junc)
|
1584
|
+
{
|
1585
|
+
if (exons.length == 0) return;
|
1586
|
+
var name = is_short? exons[0][7] + "|" + exons[0][5] : exons[0].slice(4, 7).join("|");
|
1587
|
+
var a = exons.sort(function(a,b) {return a[1]-b[1]});
|
1588
|
+
if (print_junc) {
|
1589
|
+
for (var i = 1; i < a.length; ++i)
|
1590
|
+
print(a[i][0], a[i-1][2], a[i][1], name, 1000, a[i][3]);
|
1591
|
+
return;
|
1592
|
+
}
|
1593
|
+
var sizes = [], starts = [], st, en;
|
1594
|
+
st = a[0][1];
|
1595
|
+
en = a[a.length - 1][2];
|
1596
|
+
if (cds_st == 1<<30) cds_st = st;
|
1597
|
+
if (cds_en == 0) cds_en = en;
|
1598
|
+
if (cds_st < st || cds_en > en)
|
1599
|
+
throw Error("inconsistent thick start or end for transcript " + a[0][4]);
|
1600
|
+
for (var i = 0; i < a.length; ++i) {
|
1601
|
+
sizes.push(a[i][2] - a[i][1]);
|
1602
|
+
starts.push(a[i][1] - st);
|
1603
|
+
}
|
1604
|
+
var color = colors[a[0][5]];
|
1605
|
+
if (color == null) color = '196,196,196';
|
1606
|
+
print(a[0][0], st, en, name, 1000, a[0][3], cds_st, cds_en, color, a.length, sizes.join(",") + ",", starts.join(",") + ",");
|
1607
|
+
}
|
1608
|
+
|
1609
|
+
var re_gtf = /\b(transcript_id|transcript_type|transcript_biotype|gene_name|gene_id|gbkey|transcript_name) "([^"]+)";/g;
|
1610
|
+
var re_gff3 = /\b(transcript_id|transcript_type|transcript_biotype|gene_name|gene_id|gbkey|transcript_name)=([^;]+)/g;
|
1611
|
+
var re_gtf_gene = /\b(gene_id|gene_type|gene_name) "([^;]+)";/g;
|
1612
|
+
var re_gff3_gene = /\b(gene_id|gene_type|source_gene|gene_biotype|gene_name)=([^;]+);/g;
|
1613
|
+
var buf = new Bytes();
|
1614
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
1615
|
+
|
1616
|
+
var exons = [], cds_st = 1<<30, cds_en = 0, last_id = null;
|
1617
|
+
while (file.readline(buf) >= 0) {
|
1618
|
+
var t = buf.toString().split("\t");
|
1619
|
+
if (keep_gff) {
|
1620
|
+
if (t[0].charAt(0) != '#' && ens2ucsc[t[0]] != null)
|
1621
|
+
t[0] = ens2ucsc[t[0]];
|
1622
|
+
print(t.join("\t"));
|
1623
|
+
continue;
|
1624
|
+
}
|
1625
|
+
if (t[0].charAt(0) == '#') continue;
|
1626
|
+
if (output_gene) {
|
1627
|
+
var id = null, src = null, biotype = null, type = "", name = "N/A";
|
1628
|
+
if (t[2] != "gene") continue;
|
1629
|
+
while ((m = re_gtf_gene.exec(t[8])) != null) {
|
1630
|
+
if (m[1] == "gene_id") id = m[2];
|
1631
|
+
else if (m[1] == "gene_type") type = m[2];
|
1632
|
+
else if (m[1] == "gene_name") name = m[2];
|
1633
|
+
}
|
1634
|
+
while ((m = re_gff3_gene.exec(t[8])) != null) {
|
1635
|
+
if (m[1] == "gene_id") id = m[2];
|
1636
|
+
else if (m[1] == "source_gene") src = m[2];
|
1637
|
+
else if (m[1] == "gene_type") type = m[2];
|
1638
|
+
else if (m[1] == "gene_biotype") biotype = m[2];
|
1639
|
+
else if (m[1] == "gene_name") name = m[2];
|
1640
|
+
}
|
1641
|
+
if (src != null) id = src;
|
1642
|
+
if (type == "" && biotype != null) type = biotype;
|
1643
|
+
print(t[0], parseInt(t[3]) - 1, t[4], [id, type, name].join("|"), 1000, t[6]);
|
1644
|
+
continue;
|
1645
|
+
}
|
1646
|
+
if (t[2] != "CDS" && t[2] != "exon") continue;
|
1647
|
+
t[3] = parseInt(t[3]) - 1;
|
1648
|
+
t[4] = parseInt(t[4]);
|
1649
|
+
var id = null, type = "", name = "N/A", biotype = "", m, tname = "N/A";
|
1650
|
+
while ((m = re_gtf.exec(t[8])) != null) {
|
1651
|
+
if (m[1] == "transcript_id") id = m[2];
|
1652
|
+
else if (m[1] == "transcript_type") type = m[2];
|
1653
|
+
else if (m[1] == "transcript_biotype" || m[1] == "gbkey") biotype = m[2];
|
1654
|
+
else if (m[1] == "gene_name" || m[1] == "gene_id") name = m[2];
|
1655
|
+
else if (m[1] == "transcript_name") tname = m[2];
|
1656
|
+
}
|
1657
|
+
while ((m = re_gff3.exec(t[8])) != null) {
|
1658
|
+
if (m[1] == "transcript_id") id = m[2];
|
1659
|
+
else if (m[1] == "transcript_type") type = m[2];
|
1660
|
+
else if (m[1] == "transcript_biotype" || m[1] == "gbkey") biotype = m[2];
|
1661
|
+
else if (m[1] == "gene_name" || m[1] == "gene_id") name = m[2];
|
1662
|
+
else if (m[1] == "transcript_name") tname = m[2];
|
1663
|
+
}
|
1664
|
+
if (type == "" && biotype != "") type = biotype;
|
1665
|
+
if (id == null) throw Error("No transcript_id");
|
1666
|
+
if (id != last_id) {
|
1667
|
+
print_bed12(exons, cds_st, cds_en, is_short, print_junc);
|
1668
|
+
exons = [], cds_st = 1<<30, cds_en = 0;
|
1669
|
+
last_id = id;
|
1670
|
+
}
|
1671
|
+
if (t[2] == "CDS") {
|
1672
|
+
cds_st = cds_st < t[3]? cds_st : t[3];
|
1673
|
+
cds_en = cds_en > t[4]? cds_en : t[4];
|
1674
|
+
} else if (t[2] == "exon") {
|
1675
|
+
if (fn_ucsc_fai != null) {
|
1676
|
+
if (ens2ucsc[t[0]] != null)
|
1677
|
+
t[0] = ens2ucsc[t[0]];
|
1678
|
+
else if (/^[A-Z]+\d+\.\d+$/.test(t[0]))
|
1679
|
+
t[0] = t[0].replace(/([A-Z]+\d+)\.(\d+)/, "chrUn_$1v$2");
|
1680
|
+
}
|
1681
|
+
exons.push([t[0], t[3], t[4], t[6], id, type, name, tname]);
|
1682
|
+
}
|
1683
|
+
}
|
1684
|
+
if (last_id != null)
|
1685
|
+
print_bed12(exons, cds_st, cds_en, is_short, print_junc);
|
1686
|
+
|
1687
|
+
file.close();
|
1688
|
+
buf.destroy();
|
1689
|
+
}
|
1690
|
+
|
1691
|
+
function paf_sam2paf(args)
|
1692
|
+
{
|
1693
|
+
var c, pri_only = false, long_cs = false;
|
1694
|
+
while ((c = getopt(args, "pL")) != null) {
|
1695
|
+
if (c == 'p') pri_only = true;
|
1696
|
+
else if (c == 'L') long_cs = true;
|
1697
|
+
}
|
1698
|
+
if (args.length == getopt.ind) {
|
1699
|
+
print("Usage: paftools.js sam2paf [options] <in.sam>");
|
1700
|
+
print("Options:");
|
1701
|
+
print(" -p convert primary or supplementary alignments only");
|
1702
|
+
print(" -L output the cs tag in the long form");
|
1703
|
+
exit(1);
|
1704
|
+
}
|
1705
|
+
|
1706
|
+
var file = args[getopt.ind] == "-"? new File() : new File(args[getopt.ind]);
|
1707
|
+
var buf = new Bytes();
|
1708
|
+
var re = /(\d+)([MIDSHNX=])/g, re_MD = /(\d+)|(\^[A-Za-z]+)|([A-Za-z])/g, re_tag = /\t(\S\S:[AZif]):(\S+)/g;
|
1709
|
+
|
1710
|
+
var ctg_len = {}, lineno = 0;
|
1711
|
+
while (file.readline(buf) >= 0) {
|
1712
|
+
var m, n_cigar = 0, line = buf.toString();
|
1713
|
+
++lineno;
|
1714
|
+
if (line.charAt(0) == '@') {
|
1715
|
+
if (/^@SQ/.test(line)) {
|
1716
|
+
var name = (m = /\tSN:(\S+)/.exec(line)) != null? m[1] : null;
|
1717
|
+
var l = (m = /\tLN:(\d+)/.exec(line)) != null? parseInt(m[1]) : null;
|
1718
|
+
if (name != null && l != null) ctg_len[name] = l;
|
1719
|
+
}
|
1720
|
+
continue;
|
1721
|
+
}
|
1722
|
+
var t = line.split("\t", 11);
|
1723
|
+
var flag = parseInt(t[1]);
|
1724
|
+
if (t[9] != '*' && t[10] != '*' && t[9].length != t[10].length)
|
1725
|
+
throw Error("at line " + lineno + ": inconsistent SEQ and QUAL lengths - " + t[9].length + " != " + t[10].length);
|
1726
|
+
if (t[2] == '*' || (flag&4) || t[5] == '*') continue;
|
1727
|
+
if (pri_only && (flag&0x100)) continue;
|
1728
|
+
var tlen = ctg_len[t[2]];
|
1729
|
+
if (tlen == null) throw Error("at line " + lineno + ": can't find the length of contig " + t[2]);
|
1730
|
+
// find tags
|
1731
|
+
var nn = 0, NM = null, MD = null, cs_str = null, md_list = [];
|
1732
|
+
while ((m = re_tag.exec(line)) != null) {
|
1733
|
+
if (m[1] == "NM:i") NM = parseInt(m[2]);
|
1734
|
+
else if (m[1] == "nn:i") nn = parseInt(m[2]);
|
1735
|
+
else if (m[1] == "MD:Z") MD = m[2];
|
1736
|
+
else if (m[1] == "cs:Z") cs_str = m[2];
|
1737
|
+
}
|
1738
|
+
if (t[9] == '*') MD = cs_str = null;
|
1739
|
+
// infer various lengths from CIGAR
|
1740
|
+
var clip = [0, 0], soft_clip = 0, I = [0, 0], D = [0, 0], M = 0, N = 0, mm = 0, have_M = false, have_ext = false, cigar = [];
|
1741
|
+
while ((m = re.exec(t[5])) != null) {
|
1742
|
+
var l = parseInt(m[1]), op = m[2];
|
1743
|
+
if (op == 'M') M += l, have_M = true;
|
1744
|
+
else if (op == 'I') ++I[0], I[1] += l;
|
1745
|
+
else if (op == 'D') ++D[0], D[1] += l;
|
1746
|
+
else if (op == 'N') N += l;
|
1747
|
+
else if (op == 'S') clip[n_cigar == 0? 0 : 1] = l, soft_clip += l;
|
1748
|
+
else if (op == 'H') clip[n_cigar == 0? 0 : 1] = l;
|
1749
|
+
else if (op == '=') M += l, have_ext = true, op = 'M';
|
1750
|
+
else if (op == 'X') M += l, mm += l, have_ext = true, op = 'M';
|
1751
|
+
++n_cigar;
|
1752
|
+
if (MD != null && op != 'H') {
|
1753
|
+
if (cigar.length > 0 && cigar[cigar.length-1][1] == op)
|
1754
|
+
cigar[cigar.length-1][0] += l;
|
1755
|
+
else cigar.push([l, op]);
|
1756
|
+
}
|
1757
|
+
}
|
1758
|
+
var ql = M + I[1] + soft_clip;
|
1759
|
+
var tl = M + D[1] + N;
|
1760
|
+
var ts = parseInt(t[3]) - 1, te = ts + tl;
|
1761
|
+
// checking coordinate and length consistencies
|
1762
|
+
if (n_cigar > 65535)
|
1763
|
+
warn("WARNING at line " + lineno + ": " + n_cigar + " CIGAR operations");
|
1764
|
+
if (te > tlen) {
|
1765
|
+
warn("WARNING at line " + lineno + ": alignment end position larger than ref length; skipped");
|
1766
|
+
continue;
|
1767
|
+
}
|
1768
|
+
if (t[9] != '*' && t[9].length != ql) {
|
1769
|
+
warn("WARNING at line " + lineno + ": SEQ length inconsistent with CIGAR (" + t[9].length + " != " + ql + "); skipped");
|
1770
|
+
continue;
|
1771
|
+
}
|
1772
|
+
// parse MD
|
1773
|
+
var cs = [];
|
1774
|
+
if (MD != null && cs_str == null && t[9] != "*") {
|
1775
|
+
var k = 0, cx = 0, cy = 0, mx = 0, my = 0; // cx: cigar ref position; cy: cigar query; mx: MD ref; my: MD query
|
1776
|
+
while ((m = re_MD.exec(MD)) != null) {
|
1777
|
+
if (m[2] != null) { // deletion from the reference
|
1778
|
+
var len = m[2].length - 1;
|
1779
|
+
cs.push('-', m[2].substr(1));
|
1780
|
+
mx += len, cx += len, ++k;
|
1781
|
+
} else { // copy or mismatch
|
1782
|
+
var ml = m[1] != null? parseInt(m[1]) : 1;
|
1783
|
+
while (k < cigar.length && cigar[k][1] != 'D') {
|
1784
|
+
var cl = cigar[k][0], op = cigar[k][1];
|
1785
|
+
if (op == 'M') {
|
1786
|
+
if (my + ml < cy + cl) {
|
1787
|
+
if (ml > 0) {
|
1788
|
+
if (m[3] != null) cs.push('*', m[3], t[9][my]);
|
1789
|
+
else if (long_cs) cs.push('=', t[9].substr(my, ml));
|
1790
|
+
else cs.push(':', ml);
|
1791
|
+
}
|
1792
|
+
mx += ml, my += ml, ml = 0;
|
1793
|
+
break;
|
1794
|
+
} else {
|
1795
|
+
var dl = cy + cl - my;
|
1796
|
+
if (long_cs) cs.push('=', t[9].substr(my, dl));
|
1797
|
+
else cs.push(':', dl);
|
1798
|
+
cx += cl, cy += cl, ++k;
|
1799
|
+
mx += dl, my += dl, ml -= dl;
|
1800
|
+
}
|
1801
|
+
} else if (op == 'I') {
|
1802
|
+
cs.push('+', t[9].substr(cy, cl));
|
1803
|
+
cy += cl, my += cl, ++k;
|
1804
|
+
} else if (op == 'S') {
|
1805
|
+
cy += cl, my += cl, ++k;
|
1806
|
+
} else throw Error("at line " + lineno + ": inconsistent MD tag");
|
1807
|
+
}
|
1808
|
+
if (ml != 0) throw Error("at line " + lineno + ": inconsistent MD tag");
|
1809
|
+
}
|
1810
|
+
}
|
1811
|
+
if (cx != mx || cy != my) throw Error("at line " + lineno + ": inconsistent MD tag");
|
1812
|
+
}
|
1813
|
+
// compute matching length, block length and calibrate NM
|
1814
|
+
if (have_ext && !have_M) { // extended CIGAR
|
1815
|
+
if (NM != null && NM != I[1] + D[1] + mm)
|
1816
|
+
warn("WARNING at line " + lineno + ": NM is different from sum of gaps and mismatches");
|
1817
|
+
NM = I[1] + D[1] + mm;
|
1818
|
+
} else if (NM != null) { // standard CIGAR; NM present
|
1819
|
+
if (NM < I[1] + D[1]) {
|
1820
|
+
warn("WARNING at line " + lineno + ": NM is less than the total number of gaps (" + NM + " < " + (I[1]+D[1]) + ")");
|
1821
|
+
NM = I[1] + D[1];
|
1822
|
+
}
|
1823
|
+
mm = NM - (I[1] + D[1]);
|
1824
|
+
} else { // no way to compute mm
|
1825
|
+
warn("WARNING at line " + lineno + ": unable to find the number of mismatches; assuming zero");
|
1826
|
+
mm = 0;
|
1827
|
+
}
|
1828
|
+
var mlen = M - mm;
|
1829
|
+
var blen = M + I[1] + D[1];
|
1830
|
+
// find query name, start and end
|
1831
|
+
var qlen = M + I[1] + clip[0] + clip[1];
|
1832
|
+
var qname = t[0], qs, qe;
|
1833
|
+
if ((flag&1) && (flag&0x40)) qname += '/1';
|
1834
|
+
if ((flag&1) && (flag&0x80)) qname += '/2';
|
1835
|
+
if (flag&16) qs = clip[1], qe = qlen - clip[0];
|
1836
|
+
else qs = clip[0], qe = qlen - clip[1];
|
1837
|
+
// optional tags
|
1838
|
+
var type = flag&0x100? 'S' : 'P';
|
1839
|
+
var tags = ["tp:A:" + type];
|
1840
|
+
if (NM != null) tags.push("mm:i:"+mm);
|
1841
|
+
tags.push("gn:i:"+(I[1]+D[1]), "go:i:"+(I[0]+D[0]), "cg:Z:" + t[5].replace(/\d+[SH]/g, ''));
|
1842
|
+
if (cs_str != null) tags.push("cs:Z:" + cs_str);
|
1843
|
+
else if (cs.length > 0) tags.push("cs:Z:" + cs.join(""));
|
1844
|
+
// print out
|
1845
|
+
var a = [qname, qlen, qs, qe, flag&16? '-' : '+', t[2], tlen, ts, te, mlen, blen, t[4]];
|
1846
|
+
print(a.join("\t"), tags.join("\t"));
|
1847
|
+
}
|
1848
|
+
|
1849
|
+
buf.destroy();
|
1850
|
+
file.close();
|
1851
|
+
}
|
1852
|
+
|
1853
|
+
function paf_delta2paf(args)
|
1854
|
+
{
|
1855
|
+
if (args.length == 0) {
|
1856
|
+
print("Usage: paftools.js delta2paf <in.delta>");
|
1857
|
+
exit(1);
|
1858
|
+
}
|
1859
|
+
|
1860
|
+
var buf = new Bytes();
|
1861
|
+
var file = args[0] == '-'? new File() : new File(args[0]);
|
1862
|
+
|
1863
|
+
var rname, qname, rlen, qlen, qs, qe, rs, re, strand, NM, cigar, x, y, seen_gt = false;
|
1864
|
+
while (file.readline(buf) >= 0) {
|
1865
|
+
var m, line = buf.toString();
|
1866
|
+
if ((m = /^>(\S+)\s+(\S+)\s+(\d+)\s+(\d+)/.exec(line)) != null) {
|
1867
|
+
rname = m[1], qname = m[2], rlen = parseInt(m[3]), qlen = parseInt(m[4]);
|
1868
|
+
seen_gt = true;
|
1869
|
+
continue;
|
1870
|
+
}
|
1871
|
+
if (!seen_gt) continue;
|
1872
|
+
var t = line.split(" ");
|
1873
|
+
if (t.length == 7) {
|
1874
|
+
for (var i = 0; i < 5; ++i)
|
1875
|
+
t[i] = parseInt(t[i]);
|
1876
|
+
strand = ((t[0] < t[1] && t[2] < t[3]) || (t[0] > t[1] && t[2] > t[3]))? 1 : -1;
|
1877
|
+
rs = (t[0] < t[1]? t[0] : t[1]) - 1;
|
1878
|
+
re = t[1] > t[0]? t[1] : t[0];
|
1879
|
+
qs = (t[2] < t[3]? t[2] : t[3]) - 1;
|
1880
|
+
qe = t[3] > t[2]? t[3] : t[2];
|
1881
|
+
x = y = 0;
|
1882
|
+
NM = parseInt(t[4]);
|
1883
|
+
cigar = [];
|
1884
|
+
} else if (t.length == 1) {
|
1885
|
+
var d = parseInt(t[0]);
|
1886
|
+
if (d == 0) {
|
1887
|
+
var blen = 0, cigar_str = [];
|
1888
|
+
if (re - rs - x != qe - qs - y) throw Error("inconsisnt alignment");
|
1889
|
+
cigar.push((re - rs - x) << 4);
|
1890
|
+
for (var i = 0; i < cigar.length; ++i) {
|
1891
|
+
blen += cigar[i] >> 4;
|
1892
|
+
cigar_str.push((cigar[i]>>4) + "MID".charAt(cigar[i]&0xf));
|
1893
|
+
}
|
1894
|
+
print([qname, qlen, qs, qe, strand > 0? '+' : '-', rname, rlen, rs, re, blen - NM, blen, 0, "NM:i:" + NM, "cg:Z:" + cigar_str.join("")].join("\t"));
|
1895
|
+
} else if (d > 0) {
|
1896
|
+
var l = d - 1;
|
1897
|
+
x += l + 1, y += l;
|
1898
|
+
if (l > 0) cigar.push(l<<4);
|
1899
|
+
if (cigar.length > 0 && (cigar[cigar.length-1]&0xf) == 2)
|
1900
|
+
cigar[cigar.length-1] += 1<<4;
|
1901
|
+
else cigar.push(1<<4|2); // deletion
|
1902
|
+
} else {
|
1903
|
+
var l = -d - 1;
|
1904
|
+
x += l, y += l + 1;
|
1905
|
+
if (l > 0) cigar.push(l<<4);
|
1906
|
+
if (cigar.length > 0 && (cigar[cigar.length-1]&0xf) == 1)
|
1907
|
+
cigar[cigar.length-1] += 1<<4;
|
1908
|
+
else cigar.push(1<<4|1); // insertion
|
1909
|
+
}
|
1910
|
+
}
|
1911
|
+
}
|
1912
|
+
file.close();
|
1913
|
+
buf.destroy();
|
1914
|
+
}
|
1915
|
+
|
1916
|
+
function paf_splice2bed(args)
|
1917
|
+
{
|
1918
|
+
var colors = ["0,128,255", "255,0,0", "0,192,0"];
|
1919
|
+
|
1920
|
+
function print_lines(a, fmt, keep_multi)
|
1921
|
+
{
|
1922
|
+
if (a.length == 0) return;
|
1923
|
+
if (fmt == "bed") {
|
1924
|
+
var n_pri = 0;
|
1925
|
+
for (var i = 0; i < a.length; ++i)
|
1926
|
+
if (a[i][8] == 0) ++n_pri;
|
1927
|
+
if (n_pri > 1) {
|
1928
|
+
for (var i = 0; i < a.length; ++i)
|
1929
|
+
if (a[i][8] == 0) a[i][8] = 1;
|
1930
|
+
} else if (n_pri == 0) {
|
1931
|
+
warn("Warning: " + a[0][3] + " doesn't have a primary alignment");
|
1932
|
+
}
|
1933
|
+
for (var i = 0; i < a.length; ++i) {
|
1934
|
+
if (!keep_multi && a[i][8] == 2) continue;
|
1935
|
+
a[i][8] = colors[a[i][8]];
|
1936
|
+
print(a[i].join("\t"));
|
1937
|
+
}
|
1938
|
+
}
|
1939
|
+
a.length = 0;
|
1940
|
+
}
|
1941
|
+
|
1942
|
+
var re = /(\d+)([MIDNSHP=X])/g;
|
1943
|
+
var c, fmt = "bed", fn_name_conv = null, keep_multi = false;
|
1944
|
+
while ((c = getopt(args, "f:n:m")) != null) {
|
1945
|
+
if (c == 'f') fmt = getopt.arg;
|
1946
|
+
else if (c == 'n') fn_name_conv = getopt.arg;
|
1947
|
+
else if (c == 'm') keep_multi = true;
|
1948
|
+
}
|
1949
|
+
if (getopt.ind == args.length) {
|
1950
|
+
print("Usage: paftools.js splice2bed [options] <in.paf>|<in.sam>");
|
1951
|
+
print("Options:");
|
1952
|
+
print(" -m keep multiple mappings (SAM flag 0x100)");
|
1953
|
+
exit(1);
|
1954
|
+
}
|
1955
|
+
|
1956
|
+
var conv = null;
|
1957
|
+
if (fn_name_conv != null) {
|
1958
|
+
conv = new Map();
|
1959
|
+
var file = new File(fn_name_conv);
|
1960
|
+
var buf = new Bytes();
|
1961
|
+
while (file.readline(buf) >= 0) {
|
1962
|
+
var t = buf.toString().split("\t");
|
1963
|
+
conv.put(t[0], t[1]);
|
1964
|
+
}
|
1965
|
+
buf.destroy();
|
1966
|
+
file.close();
|
1967
|
+
}
|
1968
|
+
|
1969
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
1970
|
+
var buf = new Bytes();
|
1971
|
+
var a = [];
|
1972
|
+
while (file.readline(buf) >= 0) {
|
1973
|
+
var line = buf.toString();
|
1974
|
+
if (line.charAt(0) == '@') continue; // skip SAM header lines
|
1975
|
+
var t = line.split("\t");
|
1976
|
+
var is_pri = false, cigar = null, a1;
|
1977
|
+
var qname = conv != null? conv.get(t[0]) : null;
|
1978
|
+
if (qname != null) t[0] = qname;
|
1979
|
+
if (t.length >= 10 && t[4] != '+' && t[4] != '-' && /^\d+/.test(t[1])) { // SAM
|
1980
|
+
var flag = parseInt(t[1]);
|
1981
|
+
if (flag&1) t[0] += '/' + (flag>>6&3);
|
1982
|
+
}
|
1983
|
+
if (a.length && a[0][3] != t[0]) {
|
1984
|
+
print_lines(a, fmt, keep_multi);
|
1985
|
+
a = [];
|
1986
|
+
}
|
1987
|
+
if (t.length >= 12 && (t[4] == '+' || t[4] == '-')) { // PAF
|
1988
|
+
for (var i = 12; i < t.length; ++i) {
|
1989
|
+
if (t[i].substr(0, 5) == 'cg:Z:') {
|
1990
|
+
cigar = t[i].substr(5);
|
1991
|
+
} else if (t[i].substr(0, 5) == 's2:i:') {
|
1992
|
+
is_pri = true;
|
1993
|
+
}
|
1994
|
+
}
|
1995
|
+
a1 = [t[5], t[7], t[8], t[0], Math.floor(t[9]/t[10]*1000), t[4]];
|
1996
|
+
} else if (t.length >= 10) { // SAM
|
1997
|
+
var flag = parseInt(t[1]);
|
1998
|
+
if ((flag&4) || a[2] == '*') continue;
|
1999
|
+
cigar = t[5];
|
2000
|
+
is_pri = (flag&0x100)? false : true;
|
2001
|
+
a1 = [t[2], parseInt(t[3])-1, null, t[0], 1000, (flag&16)? '-' : '+'];
|
2002
|
+
} else {
|
2003
|
+
throw Error("unrecognized input format");
|
2004
|
+
}
|
2005
|
+
if (cigar == null) throw Error("missing CIGAR");
|
2006
|
+
var m, x0 = 0, x = 0, bs = [], bl = [];
|
2007
|
+
while ((m = re.exec(cigar)) != null) {
|
2008
|
+
if (m[2] == 'M' || m[2] == 'D') {
|
2009
|
+
x += parseInt(m[1]);
|
2010
|
+
} else if (m[2] == 'N') {
|
2011
|
+
bs.push(x0);
|
2012
|
+
bl.push(x - x0);
|
2013
|
+
x += parseInt(m[1]);
|
2014
|
+
x0 = x;
|
2015
|
+
}
|
2016
|
+
}
|
2017
|
+
bs.push(x0);
|
2018
|
+
bl.push(x - x0);
|
2019
|
+
// write the BED12 line
|
2020
|
+
if (a1[2] == null) a1[2] = a1[1] + x;
|
2021
|
+
a1.push(a1[1], a1[2]); // thick start/end is the same as start/end
|
2022
|
+
a1.push(is_pri? 0 : 2, bs.length, bl.join(",")+",", bs.join(",")+",");
|
2023
|
+
a.push(a1);
|
2024
|
+
}
|
2025
|
+
print_lines(a, fmt, keep_multi);
|
2026
|
+
buf.destroy();
|
2027
|
+
file.close();
|
2028
|
+
if (conv != null) conv.destroy();
|
2029
|
+
}
|
2030
|
+
|
2031
|
+
/**********************
|
2032
|
+
* Evaluation related *
|
2033
|
+
**********************/
|
2034
|
+
|
2035
|
+
// evaluate mapping accuracy
|
2036
|
+
function paf_mapeval(args)
|
2037
|
+
{
|
2038
|
+
var c, max_mapq = 60, mode = 0, err_out_q = 256, print_err = false, ovlp_ratio = 0.1, cap_short_mapq = false;
|
2039
|
+
while ((c = getopt(args, "Q:r:m:c")) != null) {
|
2040
|
+
if (c == 'Q') err_out_q = parseInt(getopt.arg), print_err = true;
|
2041
|
+
else if (c == 'r') ovlp_ratio = parseFloat(getopt.arg);
|
2042
|
+
else if (c == 'm') mode = parseInt(getopt.arg);
|
2043
|
+
else if (c == 'c') cap_short_mapq = true;
|
2044
|
+
}
|
2045
|
+
|
2046
|
+
if (args.length == getopt.ind) {
|
2047
|
+
warn("Usage: paftools.js mapeval [options] <in.paf>|<in.sam>");
|
2048
|
+
warn("Options:");
|
2049
|
+
warn(" -r FLOAT mapping correct if overlap_length/union_length>FLOAT [" + ovlp_ratio + "]");
|
2050
|
+
warn(" -Q INT print wrong mappings with mapQ>INT [don't print]");
|
2051
|
+
warn(" -m INT 0: eval the longest aln only; 1: first aln only; 2: all primary aln [0]");
|
2052
|
+
exit(1);
|
2053
|
+
}
|
2054
|
+
|
2055
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
2056
|
+
var buf = new Bytes();
|
2057
|
+
|
2058
|
+
var tot = [], err = [];
|
2059
|
+
for (var q = 0; q <= max_mapq; ++q)
|
2060
|
+
tot[q] = err[q] = 0;
|
2061
|
+
|
2062
|
+
function is_correct(s, b)
|
2063
|
+
{
|
2064
|
+
if (s[0] != b[0] || s[3] != b[3]) return false;
|
2065
|
+
var o, l;
|
2066
|
+
if (s[1] < b[1]) {
|
2067
|
+
if (s[2] <= b[1]) return false;
|
2068
|
+
o = (s[2] < b[2]? s[2] : b[2]) - b[1];
|
2069
|
+
l = (s[2] > b[2]? s[2] : b[2]) - s[1];
|
2070
|
+
} else {
|
2071
|
+
if (b[2] <= s[1]) return false;
|
2072
|
+
o = (s[2] < b[2]? s[2] : b[2]) - s[1];
|
2073
|
+
l = (s[2] > b[2]? s[2] : b[2]) - b[1];
|
2074
|
+
}
|
2075
|
+
return o/l > ovlp_ratio? true : false;
|
2076
|
+
}
|
2077
|
+
|
2078
|
+
function count_err(qname, a, tot, err, mode)
|
2079
|
+
{
|
2080
|
+
if (a.length == 0) return;
|
2081
|
+
|
2082
|
+
var m, s;
|
2083
|
+
if ((m = /^(\S+)!(\S+)!(\d+)!(\d+)!([\+\-])$/.exec(qname)) != null) { // pbsim single-end reads
|
2084
|
+
s = [m[1], m[2], parseInt(m[3]), parseInt(m[4]), m[5]];
|
2085
|
+
} else if ((m = /^(\S+)!(\S+)!(\d+)_(\d+)!(\d+)_(\d+)!([\+\-])([\+\-])\/([12])$/.exec(qname)) != null) { // mason2 paired-end reads
|
2086
|
+
if (m[9] == '1') {
|
2087
|
+
s = [m[1], m[2], parseInt(m[3]), parseInt(m[5]), m[7]];
|
2088
|
+
} else {
|
2089
|
+
s = [m[1], m[2], parseInt(m[4]), parseInt(m[6]), m[8]];
|
2090
|
+
}
|
2091
|
+
} else throw Error("Failed to parse simulated read names '" + qname + "'");
|
2092
|
+
s.shift(); // skip the orginal read name
|
2093
|
+
|
2094
|
+
if (mode == 0 || mode == 1) { // longest only or first only
|
2095
|
+
var max_i = 0;
|
2096
|
+
if (mode == 0) { // longest only
|
2097
|
+
var max = 0;
|
2098
|
+
for (var i = 0; i < a.length; ++i)
|
2099
|
+
if (a[i][5] > max)
|
2100
|
+
max = a[i][5], max_i = i;
|
2101
|
+
}
|
2102
|
+
var mapq = a[max_i][4];
|
2103
|
+
++tot[mapq];
|
2104
|
+
if (!is_correct(s, a[max_i])) {
|
2105
|
+
if (mapq >= err_out_q)
|
2106
|
+
print('E', qname, a[max_i].join("\t"));
|
2107
|
+
++err[mapq];
|
2108
|
+
}
|
2109
|
+
} else if (mode == 2) { // all primary mode
|
2110
|
+
var max_err_mapq = -1, max_mapq = 0, max_err_i = -1;
|
2111
|
+
if (cap_short_mapq) {
|
2112
|
+
var max = 0, max_q = 0;
|
2113
|
+
for (var i = 0; i < a.length; ++i)
|
2114
|
+
if (a[i][5] > max)
|
2115
|
+
max = a[i][5], max_q = a[i][4];
|
2116
|
+
for (var i = 0; i < a.length; ++i)
|
2117
|
+
a[i][4] = max_q < a[i][4]? max_q : a[i][4];
|
2118
|
+
}
|
2119
|
+
for (var i = 0; i < a.length; ++i) {
|
2120
|
+
max_mapq = max_mapq > a[i][4]? max_mapq : a[i][4];
|
2121
|
+
if (!is_correct(s, a[i]))
|
2122
|
+
if (a[i][4] > max_err_mapq)
|
2123
|
+
max_err_mapq = a[i][4], max_err_i = i;
|
2124
|
+
}
|
2125
|
+
if (max_err_mapq >= 0) {
|
2126
|
+
++tot[max_err_mapq], ++err[max_err_mapq];
|
2127
|
+
if (max_err_mapq >= err_out_q)
|
2128
|
+
print('E', qname, a[max_err_i].join("\t"));
|
2129
|
+
} else ++tot[max_mapq];
|
2130
|
+
}
|
2131
|
+
}
|
2132
|
+
|
2133
|
+
var lineno = 0, last = null, a = [], n_unmapped = null;
|
2134
|
+
var re_cigar = /(\d+)([MIDSHN])/g;
|
2135
|
+
while (file.readline(buf) >= 0) {
|
2136
|
+
var m, line = buf.toString();
|
2137
|
+
++lineno;
|
2138
|
+
if (line[0] != '@') {
|
2139
|
+
var t = line.split("\t");
|
2140
|
+
if (t[4] == '+' || t[4] == '-') { // PAF
|
2141
|
+
if (last != t[0]) {
|
2142
|
+
if (last != null) count_err(last, a, tot, err, mode);
|
2143
|
+
a = [], last = t[0];
|
2144
|
+
}
|
2145
|
+
if (/\ts1:i:\d+/.test(line) && !/\ts2:i:\d+/.test(line)) // secondary alignment in minimap2 PAF
|
2146
|
+
continue;
|
2147
|
+
var mapq = parseInt(t[11]);
|
2148
|
+
if (mapq > max_mapq) mapq = max_mapq;
|
2149
|
+
a.push([t[5], parseInt(t[7]), parseInt(t[8]), t[4], mapq, parseInt(t[9])]);
|
2150
|
+
} else { // SAM
|
2151
|
+
var flag = parseInt(t[1]);
|
2152
|
+
var read_no = flag>>6&0x3;
|
2153
|
+
var qname = t[0];
|
2154
|
+
if (!/\/[12]$/.test(qname))
|
2155
|
+
qname = read_no == 1 || read_no == 2? t[0] + '/' + read_no : t[0];
|
2156
|
+
if (last != qname) {
|
2157
|
+
if (last != null) count_err(last, a, tot, err, mode);
|
2158
|
+
a = [], last = qname;
|
2159
|
+
}
|
2160
|
+
if (flag&0x100) continue; // secondary alignment
|
2161
|
+
if ((flag&0x4) || t[2] == '*') { // unmapped
|
2162
|
+
if (n_unmapped == null) n_unmapped = 0;
|
2163
|
+
++n_unmapped;
|
2164
|
+
continue;
|
2165
|
+
}
|
2166
|
+
var mapq = parseInt(t[4]);
|
2167
|
+
if (mapq > max_mapq) mapq = max_mapq;
|
2168
|
+
var pos = parseInt(t[3]) - 1, pos_end = pos;
|
2169
|
+
var n_gap = 0, mlen = 0;
|
2170
|
+
while ((m = re_cigar.exec(t[5])) != null) {
|
2171
|
+
var len = parseInt(m[1]);
|
2172
|
+
if (m[2] == 'M') pos_end += len, mlen += len;
|
2173
|
+
else if (m[2] == 'I') n_gap += len;
|
2174
|
+
else if (m[2] == 'D') n_gap += len, pos_end += len;
|
2175
|
+
}
|
2176
|
+
var score = pos_end - pos;
|
2177
|
+
if ((m = /\tNM:i:(\d+)/.exec(line)) != null) {
|
2178
|
+
var NM = parseInt(m[1]);
|
2179
|
+
if (NM >= n_gap) score = mlen - (NM - n_gap);
|
2180
|
+
}
|
2181
|
+
a.push([t[2], pos, pos_end, (flag&16)? '-' : '+', mapq, score]);
|
2182
|
+
}
|
2183
|
+
}
|
2184
|
+
}
|
2185
|
+
if (last != null) count_err(last, a, tot, err, mode);
|
2186
|
+
|
2187
|
+
buf.destroy();
|
2188
|
+
file.close();
|
2189
|
+
|
2190
|
+
var sum_tot = 0, sum_err = 0, q_out = -1, sum_tot2 = 0, sum_err2 = 0;
|
2191
|
+
for (var q = max_mapq; q >= 0; --q) {
|
2192
|
+
if (tot[q] == 0) continue;
|
2193
|
+
if (q_out < 0 || err[q] > 0) {
|
2194
|
+
if (q_out >= 0) print('Q', q_out, sum_tot, sum_err, (sum_err2/sum_tot2).toFixed(9), sum_tot2);
|
2195
|
+
sum_tot = sum_err = 0, q_out = q;
|
2196
|
+
}
|
2197
|
+
sum_tot += tot[q], sum_err += err[q];
|
2198
|
+
sum_tot2 += tot[q], sum_err2 += err[q];
|
2199
|
+
}
|
2200
|
+
print('Q', q_out, sum_tot, sum_err, (sum_err2/sum_tot2).toFixed(9), sum_tot2);
|
2201
|
+
if (n_unmapped != null) print('U', n_unmapped);
|
2202
|
+
}
|
2203
|
+
|
2204
|
+
// convert mason2 SAM to FASTQ
|
2205
|
+
function paf_mason2fq(args)
|
2206
|
+
{
|
2207
|
+
if (args.length == 0) {
|
2208
|
+
print("Usage: paftools.js mason2fq <mason.sam>");
|
2209
|
+
exit(1);
|
2210
|
+
}
|
2211
|
+
|
2212
|
+
function print_se(a)
|
2213
|
+
{
|
2214
|
+
print('@' + a.slice(0, 5).join("!") + " " + a[8]);
|
2215
|
+
print(a[5]);
|
2216
|
+
print("+");
|
2217
|
+
print(a[6]);
|
2218
|
+
}
|
2219
|
+
|
2220
|
+
var buf = new Bytes(), buf2 = new Bytes();
|
2221
|
+
var file = new File(args[0]);
|
2222
|
+
var re = /(\d+)([MIDSHN])/g;
|
2223
|
+
var last = null;
|
2224
|
+
while (file.readline(buf) >= 0) {
|
2225
|
+
var t = buf.toString().split("\t");
|
2226
|
+
if (t[0].charAt(0) == '@') continue;
|
2227
|
+
var m, l_ref = 0;
|
2228
|
+
while ((m = re.exec(t[5])) != null)
|
2229
|
+
if (m[2] == 'D' || m[2] == 'M' || m[2] == 'N')
|
2230
|
+
l_ref += parseInt(m[1]);
|
2231
|
+
var flag = parseInt(t[1]);
|
2232
|
+
var rev = !!(flag&16);
|
2233
|
+
var seq, qual;
|
2234
|
+
if (rev) {
|
2235
|
+
buf2.length = 0;
|
2236
|
+
buf2.set(t[9], 0);
|
2237
|
+
buf2.revcomp();
|
2238
|
+
seq = buf2.toString();
|
2239
|
+
buf2.set(t[10], 0);
|
2240
|
+
buf2.reverse();
|
2241
|
+
qual = buf2.toString();
|
2242
|
+
} else seq = t[9], qual = t[10];
|
2243
|
+
var qname = t[0];
|
2244
|
+
qname = qname.replace(/^simulated./, "");
|
2245
|
+
var chr = t[2];
|
2246
|
+
var pos = parseInt(t[3]) - 1;
|
2247
|
+
var strand = (flag&16)? '-' : '+';
|
2248
|
+
var read_no = flag&0xc0;
|
2249
|
+
if (read_no == 0x40) read_no = 1;
|
2250
|
+
else if (read_no == 0x80) read_no = 2;
|
2251
|
+
else read_no = 0;
|
2252
|
+
var err = 0, snp = 0, indel = 0;
|
2253
|
+
for (var i = 11; i < t.length; ++i) {
|
2254
|
+
if ((m = /^XE:i:(\d+)/.exec(t[i])) != null) err = m[1];
|
2255
|
+
else if ((m = /^XS:i:(\d+)/.exec(t[i])) != null) snp = m[1];
|
2256
|
+
else if ((m = /^XI:i:(\d+)/.exec(t[i])) != null) indel = m[1];
|
2257
|
+
}
|
2258
|
+
var comment = [err, snp, indel].join(":");
|
2259
|
+
if (last == null) {
|
2260
|
+
last = [qname, chr, pos, pos + l_ref, strand, seq, qual, read_no, comment];
|
2261
|
+
} else if (last[0] != qname) {
|
2262
|
+
print_se(last);
|
2263
|
+
last = [qname, chr, pos, pos + l_ref, strand, seq, qual, read_no, comment];
|
2264
|
+
} else {
|
2265
|
+
if (read_no == 2) { // last[] is the first read
|
2266
|
+
if (last[7] != 1) throw Error("ERROR: can't find read1");
|
2267
|
+
var name = [qname, chr, last[2] + "_" + pos, last[3] + "_" + (pos + l_ref), last[4] + strand].join("!");
|
2268
|
+
print('@' + name + '/1' + ' ' + last[8]); print(last[5]); print("+"); print(last[6]);
|
2269
|
+
print('@' + name + '/2' + ' ' + comment); print(seq); print("+"); print(qual);
|
2270
|
+
} else {
|
2271
|
+
if (last[7] != 2) throw Error("ERROR: can't find read2");
|
2272
|
+
var name = [qname, chr, pos + "_" + last[2], (pos + l_ref) + "_" + last[3], strand + last[4]].join("!");
|
2273
|
+
print('@' + name + '/1' + ' ' + comment); print(seq); print("+"); print(qual);
|
2274
|
+
print('@' + name + '/2' + ' ' + last[8]); print(last[5]); print("+"); print(last[6]);
|
2275
|
+
}
|
2276
|
+
last = null;
|
2277
|
+
}
|
2278
|
+
}
|
2279
|
+
if (last != null) print_se(last);
|
2280
|
+
file.close();
|
2281
|
+
buf.destroy();
|
2282
|
+
buf2.destroy();
|
2283
|
+
}
|
2284
|
+
|
2285
|
+
// convert pbsim MAF to FASTQ
|
2286
|
+
function paf_pbsim2fq(args)
|
2287
|
+
{
|
2288
|
+
if (args.length < 2) {
|
2289
|
+
print("Usage: paftools.js pbsim2fq <ref.fa.fai> <pbsim1.maf> [[pbsim2.maf] ...]");
|
2290
|
+
exit(1);
|
2291
|
+
}
|
2292
|
+
|
2293
|
+
var file, buf = new Bytes(), buf2 = new Bytes();
|
2294
|
+
file = new File(args[0]);
|
2295
|
+
var chr_list = [];
|
2296
|
+
while (file.readline(buf) >= 0) {
|
2297
|
+
var t = buf.toString().split(/\s+/);
|
2298
|
+
chr_list.push(t[0]);
|
2299
|
+
}
|
2300
|
+
file.close();
|
2301
|
+
|
2302
|
+
for (var k = 1; k < args.length; ++k) {
|
2303
|
+
var fn = args[k];
|
2304
|
+
file = new File(fn);
|
2305
|
+
var state = 0, reg;
|
2306
|
+
while (file.readline(buf) >= 0) {
|
2307
|
+
var line = buf.toString();
|
2308
|
+
if (state == 0 && line.charAt(0) == 'a') {
|
2309
|
+
state = 1;
|
2310
|
+
} else if (state == 1 && line.charAt(0) == 's') {
|
2311
|
+
var t = line.split(/\s+/);
|
2312
|
+
var st = parseInt(t[2]);
|
2313
|
+
reg = [st, st + parseInt(t[3])];
|
2314
|
+
state = 2;
|
2315
|
+
} else if (state == 2 && line.charAt(0) == 's') {
|
2316
|
+
var m, t = line.split(/\s+/);
|
2317
|
+
if ((m = /S(\d+)_\d+/.exec(t[1])) == null) throw Error("Failed to parse the read name");
|
2318
|
+
var chr_id = parseInt(m[1]) - 1;
|
2319
|
+
if (chr_id >= chr_list.length) throw Error("Index outside the chr list");
|
2320
|
+
var name = [t[1], chr_list[chr_id], reg[0], reg[1], t[4]].join("!");
|
2321
|
+
var seq = t[6].replace(/\-/g, "");
|
2322
|
+
if (seq.length != parseInt(t[5])) throw Error("Inconsistent read length");
|
2323
|
+
if (seq.indexOf("NN") < 0) {
|
2324
|
+
if (t[4] == '-') {
|
2325
|
+
buf2.set(seq, 0);
|
2326
|
+
buf2.length = seq.length;
|
2327
|
+
buf2.revcomp();
|
2328
|
+
seq = buf2.toString();
|
2329
|
+
}
|
2330
|
+
print(">" + name);
|
2331
|
+
print(seq);
|
2332
|
+
}
|
2333
|
+
state = 0;
|
2334
|
+
}
|
2335
|
+
}
|
2336
|
+
file.close();
|
2337
|
+
}
|
2338
|
+
buf.destroy();
|
2339
|
+
buf2.destroy();
|
2340
|
+
}
|
2341
|
+
|
2342
|
+
function paf_junceval(args)
|
2343
|
+
{
|
2344
|
+
var c, l_fuzzy = 0, print_ovlp = false, print_err_only = false, first_only = false, chr_only = false;
|
2345
|
+
while ((c = getopt(args, "l:epc")) != null) {
|
2346
|
+
if (c == 'l') l_fuzzy = parseInt(getopt.arg);
|
2347
|
+
else if (c == 'e') print_err_only = print_ovlp = true;
|
2348
|
+
else if (c == 'p') print_ovlp = true;
|
2349
|
+
else if (c == 'c') chr_only = true;
|
2350
|
+
}
|
2351
|
+
|
2352
|
+
if (args.length - getopt.ind < 1) {
|
2353
|
+
print("Usage: paftools.js junceval [options] <gene.gtf> <aln.sam>");
|
2354
|
+
print("Options:");
|
2355
|
+
print(" -l INT tolerance of junction positions (0 for exact) [0]");
|
2356
|
+
print(" -p print overlapping introns");
|
2357
|
+
print(" -e print erroreous overlapping introns");
|
2358
|
+
print(" -c only consider alignments to /^(chr)?([0-9]+|X|Y)$/");
|
2359
|
+
exit(1);
|
2360
|
+
}
|
2361
|
+
|
2362
|
+
var file, buf = new Bytes();
|
2363
|
+
|
2364
|
+
var tr = {};
|
2365
|
+
file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
2366
|
+
while (file.readline(buf) >= 0) {
|
2367
|
+
var m, t = buf.toString().split("\t");
|
2368
|
+
if (t[0].charAt(0) == '#') continue;
|
2369
|
+
if (t[2] != 'exon') continue;
|
2370
|
+
var st = parseInt(t[3]) - 1;
|
2371
|
+
var en = parseInt(t[4]);
|
2372
|
+
if ((m = /transcript_id "(\S+)"/.exec(t[8])) == null) continue;
|
2373
|
+
var tid = m[1];
|
2374
|
+
if (tr[tid] == null) tr[tid] = [t[0], t[6], 0, 0, []];
|
2375
|
+
tr[tid][4].push([st, en]);
|
2376
|
+
}
|
2377
|
+
file.close();
|
2378
|
+
|
2379
|
+
var anno = {};
|
2380
|
+
for (var tid in tr) {
|
2381
|
+
var t = tr[tid];
|
2382
|
+
Interval.sort(t[4]);
|
2383
|
+
t[2] = t[4][0][0];
|
2384
|
+
t[3] = t[4][t[4].length - 1][1];
|
2385
|
+
if (anno[t[0]] == null) anno[t[0]] = [];
|
2386
|
+
var s = t[4];
|
2387
|
+
for (var i = 0; i < s.length - 1; ++i) {
|
2388
|
+
if (s[i][1] >= s[i+1][0])
|
2389
|
+
warn("WARNING: incorrect annotation for transcript "+tid+" ("+s[i][1]+" >= "+s[i+1][0]+")")
|
2390
|
+
anno[t[0]].push([s[i][1], s[i+1][0]]);
|
2391
|
+
}
|
2392
|
+
}
|
2393
|
+
tr = null;
|
2394
|
+
|
2395
|
+
for (var chr in anno) {
|
2396
|
+
var e = anno[chr];
|
2397
|
+
if (e.length == 0) continue;
|
2398
|
+
Interval.sort(e);
|
2399
|
+
var k = 0;
|
2400
|
+
for (var i = 1; i < e.length; ++i) // dedup
|
2401
|
+
if (e[i][0] != e[k][0] || e[i][1] != e[k][1])
|
2402
|
+
e[++k] = e[i].slice(0);
|
2403
|
+
e.length = k + 1;
|
2404
|
+
Interval.index_end(e);
|
2405
|
+
}
|
2406
|
+
|
2407
|
+
var n_pri = 0, n_unmapped = 0, n_mapped = 0;
|
2408
|
+
var n_sgl = 0, n_splice = 0, n_splice_hit = 0, n_splice_novel = 0;
|
2409
|
+
|
2410
|
+
file = getopt.ind+1 >= args.length || args[getopt.ind+1] == '-'? new File() : new File(args[getopt.ind+1]);
|
2411
|
+
var last_qname = null;
|
2412
|
+
var re_cigar = /(\d+)([MIDNSHP=X])/g;
|
2413
|
+
while (file.readline(buf) >= 0) {
|
2414
|
+
var m, t = buf.toString().split("\t");
|
2415
|
+
var ctg_name = null, cigar = null, pos = null, qname = t[0];
|
2416
|
+
|
2417
|
+
if (t[0].charAt(0) == '@') continue;
|
2418
|
+
if (t[4] == '+' || t[4] == '-' || t[4] == '*') { // PAF
|
2419
|
+
ctg_name = t[5], pos = parseInt(t[7]);
|
2420
|
+
var type = 'P';
|
2421
|
+
for (i = 12; i < t.length; ++i) {
|
2422
|
+
if ((m = /^(tp:A|cg:Z):(\S+)/.exec(t[i])) != null) {
|
2423
|
+
if (m[1] == 'tp:A') type = m[2];
|
2424
|
+
else cigar = m[2];
|
2425
|
+
}
|
2426
|
+
}
|
2427
|
+
if (type == 'S') continue; // secondary
|
2428
|
+
} else { // SAM
|
2429
|
+
ctg_name = t[2], pos = parseInt(t[3]) - 1, cigar = t[5];
|
2430
|
+
var flag = parseInt(t[1]);
|
2431
|
+
if (flag&0x100) continue; // secondary
|
2432
|
+
}
|
2433
|
+
|
2434
|
+
if (chr_only && !/^(chr)?([0-9]+|X|Y)$/.test(ctg_name)) continue;
|
2435
|
+
if (first_only && last_qname == qname) continue;
|
2436
|
+
if (ctg_name == '*') { // unmapped
|
2437
|
+
++n_unmapped;
|
2438
|
+
continue;
|
2439
|
+
} else {
|
2440
|
+
++n_pri;
|
2441
|
+
if (last_qname != qname) {
|
2442
|
+
++n_mapped;
|
2443
|
+
last_qname = qname;
|
2444
|
+
}
|
2445
|
+
}
|
2446
|
+
|
2447
|
+
var intron = [];
|
2448
|
+
while ((m = re_cigar.exec(cigar)) != null) {
|
2449
|
+
var len = parseInt(m[1]), op = m[2];
|
2450
|
+
if (op == 'N') {
|
2451
|
+
intron.push([pos, pos + len]);
|
2452
|
+
pos += len;
|
2453
|
+
} else if (op == 'M' || op == 'X' || op == '=' || op == 'D') pos += len;
|
2454
|
+
}
|
2455
|
+
if (intron.length == 0) {
|
2456
|
+
++n_sgl;
|
2457
|
+
continue;
|
2458
|
+
}
|
2459
|
+
n_splice += intron.length;
|
2460
|
+
|
2461
|
+
var chr = anno[ctg_name];
|
2462
|
+
if (chr != null) {
|
2463
|
+
for (var i = 0; i < intron.length; ++i) {
|
2464
|
+
var o = Interval.find_ovlp(chr, intron[i][0], intron[i][1]);
|
2465
|
+
if (o.length > 0) {
|
2466
|
+
var hit = false;
|
2467
|
+
for (var j = 0; j < o.length; ++j) {
|
2468
|
+
var st_diff = intron[i][0] - o[j][0];
|
2469
|
+
var en_diff = intron[i][1] - o[j][1];
|
2470
|
+
if (st_diff < 0) st_diff = -st_diff;
|
2471
|
+
if (en_diff < 0) en_diff = -en_diff;
|
2472
|
+
if (st_diff <= l_fuzzy && en_diff <= l_fuzzy)
|
2473
|
+
++n_splice_hit, hit = true;
|
2474
|
+
if (hit) break;
|
2475
|
+
}
|
2476
|
+
if (print_ovlp) {
|
2477
|
+
var type = hit? 'C' : 'P';
|
2478
|
+
if (hit && print_err_only) continue;
|
2479
|
+
var x = '[';
|
2480
|
+
for (var j = 0; j < o.length; ++j) {
|
2481
|
+
if (j) x += ', ';
|
2482
|
+
x += '(' + o[j][0] + "," + o[j][1] + ')';
|
2483
|
+
}
|
2484
|
+
x += ']';
|
2485
|
+
print(type, qname, i+1, ctg_name, intron[i][0], intron[i][1], x);
|
2486
|
+
}
|
2487
|
+
} else {
|
2488
|
+
++n_splice_novel;
|
2489
|
+
if (print_ovlp)
|
2490
|
+
print('N', qname, i+1, ctg_name, intron[i][0], intron[i][1]);
|
2491
|
+
}
|
2492
|
+
}
|
2493
|
+
} else {
|
2494
|
+
n_splice_novel += intron.length;
|
2495
|
+
}
|
2496
|
+
}
|
2497
|
+
file.close();
|
2498
|
+
|
2499
|
+
buf.destroy();
|
2500
|
+
|
2501
|
+
if (!print_ovlp) {
|
2502
|
+
print("# unmapped reads: " + n_unmapped);
|
2503
|
+
print("# mapped reads: " + n_mapped);
|
2504
|
+
print("# primary alignments: " + n_pri);
|
2505
|
+
print("# singletons: " + n_sgl);
|
2506
|
+
print("# predicted introns: " + n_splice);
|
2507
|
+
print("# non-overlapping introns: " + n_splice_novel);
|
2508
|
+
print("# correct introns: " + n_splice_hit + " (" + (n_splice_hit / n_splice * 100).toFixed(2) + "%)");
|
2509
|
+
}
|
2510
|
+
}
|
2511
|
+
|
2512
|
+
// evaluate overlap sensitivity
|
2513
|
+
function paf_ov_eval(args)
|
2514
|
+
{
|
2515
|
+
var c, min_ovlp = 2000, min_frac = 0.95, min_mapq = 10;
|
2516
|
+
while ((c = getopt(args, "q:l:f:")) != null) {
|
2517
|
+
if (c == 'q') min_mapq = parseInt(getopt.arg);
|
2518
|
+
else if (c == 'l') min_ovlp = parseInt(getopt.arg);
|
2519
|
+
else if (c == 'f') min_frac = parseFloat(getopt.arg);
|
2520
|
+
}
|
2521
|
+
if (args.length - getopt.ind < 2) {
|
2522
|
+
print("Usage: sort -k6,6 -k8,8n to-ref.paf | paftools.js ov-eval [options] - <ovlp.paf>");
|
2523
|
+
print("Options:");
|
2524
|
+
print(" -l INT min overlap length [2000]");
|
2525
|
+
print(" -q INT min mapping quality [10]");
|
2526
|
+
print(" -f FLOAT min fraction of mapped length [0.95]");
|
2527
|
+
exit(1);
|
2528
|
+
}
|
2529
|
+
|
2530
|
+
var buf = new Bytes();
|
2531
|
+
var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
|
2532
|
+
var a = [], h = {};
|
2533
|
+
while (file.readline(buf) >= 0) {
|
2534
|
+
var t = buf.toString().split("\t");
|
2535
|
+
var is_pri = false;
|
2536
|
+
if (parseInt(t[11]) < min_mapq) continue;
|
2537
|
+
for (var i = 12; i < t.length; ++i)
|
2538
|
+
if (t[i] == 'tp:A:P')
|
2539
|
+
is_pri = true;
|
2540
|
+
if (!is_pri) continue;
|
2541
|
+
for (var i = 1; i <= 3; ++i)
|
2542
|
+
t[i] = parseInt(t[i]);
|
2543
|
+
for (var i = 6; i <= 8; ++i)
|
2544
|
+
t[i] = parseInt(t[i]);
|
2545
|
+
if (t[3] - t[2] < min_ovlp || t[8] - t[7] < min_ovlp || (t[3] - t[2]) / t[1] < min_frac)
|
2546
|
+
continue;
|
2547
|
+
var ctg = t[5], st = t[7], en = t[8];
|
2548
|
+
while (a.length > 0) {
|
2549
|
+
if (a[0][0] == ctg && a[0][2] > st)
|
2550
|
+
break;
|
2551
|
+
else a.shift();
|
2552
|
+
}
|
2553
|
+
for (var j = 0; j < a.length; ++j) {
|
2554
|
+
if (a[j][3] == t[0]) continue;
|
2555
|
+
var len = (en > a[j][2]? a[j][2] : en) - st;
|
2556
|
+
if (len >= min_ovlp) {
|
2557
|
+
var key = a[j][3] < t[0]? a[j][3] + "\t" + t[0] : t[0] + "\t" + a[j][3];
|
2558
|
+
h[key] = len;
|
2559
|
+
}
|
2560
|
+
}
|
2561
|
+
a.push([ctg, st, en, t[0]]);
|
2562
|
+
}
|
2563
|
+
file.close();
|
2564
|
+
|
2565
|
+
file = new File(args[getopt.ind + 1]);
|
2566
|
+
while (file.readline(buf) >= 0) {
|
2567
|
+
var t = buf.toString().split("\t");
|
2568
|
+
var key = t[0] < t[5]? t[0] + "\t" + t[5] : t[5] + "\t" + t[0];
|
2569
|
+
if (h[key] > 0) h[key] = -h[key];
|
2570
|
+
}
|
2571
|
+
file.close();
|
2572
|
+
buf.destroy();
|
2573
|
+
|
2574
|
+
var n_ovlp = 0, n_missing = 0;
|
2575
|
+
for (var key in h) {
|
2576
|
+
++n_ovlp;
|
2577
|
+
if (h[key] > 0) ++n_missing;
|
2578
|
+
}
|
2579
|
+
print(n_ovlp + " overlaps inferred from the reference mapping");
|
2580
|
+
print(n_missing + " missed by the read overlapper");
|
2581
|
+
print((100 * (1 - n_missing / n_ovlp)).toFixed(2) + "% sensitivity");
|
2582
|
+
}
|
2583
|
+
|
2584
|
+
function paf_vcfstat(args)
|
2585
|
+
{
|
2586
|
+
var c, ts = { "AG":1, "GA":1, "CT":1, "TC":1 };
|
2587
|
+
while ((c = getopt(args, "")) != null) {
|
2588
|
+
}
|
2589
|
+
var buf = new Bytes();
|
2590
|
+
var file = args.length == getopt.ind? new File() : new File(args[getopt.ind]);
|
2591
|
+
var x = { sub:0, ts:0, tv:0, ins:0, del:0, ins1:0, del1:0, ins2:0, del2:0, ins50:0, del50:0, ins1k:0, del1k:0, ins7k:0, del7k:0, insinf:0, delinf:0 };
|
2592
|
+
while (file.readline(buf) >= 0) {
|
2593
|
+
var t = buf.toString().split("\t");
|
2594
|
+
if (t[0][0] == '#') continue;
|
2595
|
+
var alt = t[4].split(",");
|
2596
|
+
var ref = t[3];
|
2597
|
+
for (var i = 0; i < alt.length; ++i) {
|
2598
|
+
var a = alt[i];
|
2599
|
+
if (a[0] == '<' || a[1] == '>') continue;
|
2600
|
+
var l = ref.length < a.length? ref.length : a.length;
|
2601
|
+
for (var j = 0; j < l; ++j) {
|
2602
|
+
if (ref[j] != a[j]) {
|
2603
|
+
++x.sub;
|
2604
|
+
if (ts[ref[j] + a[j]]) ++x.ts;
|
2605
|
+
else ++x.tv;
|
2606
|
+
}
|
2607
|
+
}
|
2608
|
+
var d = a.length - ref.length;
|
2609
|
+
if (d > 0) {
|
2610
|
+
++x.ins;
|
2611
|
+
if (d == 1) ++x.ins1;
|
2612
|
+
else if (d == 2) ++x.ins2;
|
2613
|
+
else if (d < 50) ++x.ins50;
|
2614
|
+
else if (d < 1000) ++x.ins1k;
|
2615
|
+
else if (d < 7000) ++x.ins7k;
|
2616
|
+
else ++x.insinf;
|
2617
|
+
} else if (d < 0) {
|
2618
|
+
d = -d;
|
2619
|
+
++x.del;
|
2620
|
+
if (d == 1) ++x.del1;
|
2621
|
+
else if (d == 2) ++x.del2;
|
2622
|
+
else if (d < 50) ++x.del50;
|
2623
|
+
else if (d < 1000) ++x.del1k;
|
2624
|
+
else if (d < 7000) ++x.del7k;
|
2625
|
+
else ++x.delinf;
|
2626
|
+
}
|
2627
|
+
}
|
2628
|
+
}
|
2629
|
+
file.close();
|
2630
|
+
buf.destroy();
|
2631
|
+
print("# substitutions: " + x.sub);
|
2632
|
+
print("ts/tv: " + (x.ts / x.tv).toFixed(3));
|
2633
|
+
print("# insertions: " + x.ins);
|
2634
|
+
print("# 1bp insertions: " + x.ins1);
|
2635
|
+
print("# 2bp insertions: " + x.ins2);
|
2636
|
+
print("# [3,50) insertions: " + x.ins50);
|
2637
|
+
print("# [50,1000) insertions: " + x.ins1k);
|
2638
|
+
print("# [1000,7000) insertions: " + x.ins7k);
|
2639
|
+
print("# >=7000 insertions: " + x.insinf);
|
2640
|
+
print("# deletions: " + x.del);
|
2641
|
+
print("# 1bp deletions: " + x.del1);
|
2642
|
+
print("# 2bp deletions: " + x.del2);
|
2643
|
+
print("# [3,50) deletions: " + x.del50);
|
2644
|
+
print("# [50,1000) deletions: " + x.del1k);
|
2645
|
+
print("# [1000,7000) deletions: " + x.del7k);
|
2646
|
+
print("# >=7000 deletions: " + x.delinf);
|
2647
|
+
}
|
2648
|
+
|
2649
|
+
function paf_parseNum(s) {
|
2650
|
+
var m, x = null;
|
2651
|
+
if ((m = /^(\d*\.?\d*)([mMgGkK]?)/.exec(s)) != null) {
|
2652
|
+
x = parseFloat(m[1]);
|
2653
|
+
if (m[2] == 'k' || m[2] == 'K') x *= 1000;
|
2654
|
+
else if (m[2] == 'm' || m[2] == 'M') x *= 1000000;
|
2655
|
+
else if (m[2] == 'g' || m[2] == 'G') x *= 1000000000;
|
2656
|
+
}
|
2657
|
+
return Math.floor(x + .499);
|
2658
|
+
}
|
2659
|
+
|
2660
|
+
function paf_misjoin(args)
|
2661
|
+
{
|
2662
|
+
var c, min_seg_len = 1000000, max_gap = 1000000, fn_cen = null, show_long = false, show_err = false, cen_ratio = 0.5;
|
2663
|
+
var n_diff = [0, 0], n_gap = [0, 0], n_inv = [0, 0], n_inv_end = [0, 0];
|
2664
|
+
while ((c = getopt(args, "l:g:c:per:")) != null) {
|
2665
|
+
if (c == 'l') min_seg_len = paf_parseNum(getopt.arg);
|
2666
|
+
else if (c == 'g') max_gap = paf_parseNum(getopt.arg);
|
2667
|
+
else if (c == 'c') fn_cen = getopt.arg;
|
2668
|
+
else if (c == 'r') cen_ratio = parseFloat(getopt.arg);
|
2669
|
+
else if (c == 'p') show_long = true;
|
2670
|
+
else if (c == 'e') show_err = true;
|
2671
|
+
}
|
2672
|
+
if (args.length == getopt.ind) {
|
2673
|
+
print("Usage: paftools.js misjoin [options] <in.paf>");
|
2674
|
+
print("Options:");
|
2675
|
+
print(" -c FILE BED for centromeres []");
|
2676
|
+
print(" -r FLOAT count a centromeric event if overlap ratio > FLOAT [" + cen_ratio + "]");
|
2677
|
+
print(" -l NUM min alignment block length [1m]");
|
2678
|
+
print(" -g NUM max gap size [1m]");
|
2679
|
+
print(" -e output misjoins not involving centromeres");
|
2680
|
+
print(" -p output long alignment blocks for debugging");
|
2681
|
+
return;
|
2682
|
+
}
|
2683
|
+
var cen = {};
|
2684
|
+
var file, buf = new Bytes();
|
2685
|
+
if (fn_cen != null) {
|
2686
|
+
file = new File(fn_cen);
|
2687
|
+
while (file.readline(buf) >= 0) {
|
2688
|
+
var t = buf.toString().split("\t");
|
2689
|
+
if (cen[t[0]] == null) cen[t[0]] = [];
|
2690
|
+
cen[t[0]].push([parseInt(t[1]), parseInt(t[2])]);
|
2691
|
+
}
|
2692
|
+
file.close();
|
2693
|
+
}
|
2694
|
+
|
2695
|
+
function test_cen(cen, chr, st, en) {
|
2696
|
+
var b = cen[chr], len = 0;
|
2697
|
+
if (b == null) return false;
|
2698
|
+
for (var j = 0; j < b.length; ++j)
|
2699
|
+
if (b[j][0] < en && b[j][1] > st) {
|
2700
|
+
var s = b[j][0] > st? b[j][0] : st;
|
2701
|
+
var e = b[j][1] < en? b[j][1] : en;
|
2702
|
+
len += e - s;
|
2703
|
+
}
|
2704
|
+
return len < (en - st) * cen_ratio? false : true;
|
2705
|
+
}
|
2706
|
+
|
2707
|
+
function process(a) {
|
2708
|
+
var k = 0;
|
2709
|
+
for (var i = 0; i < a.length; ++i) {
|
2710
|
+
for (var j = 1; j <= 3; ++j) a[i][j] = parseInt(a[i][j]);
|
2711
|
+
for (var j = 6; j <= 11; ++j) a[i][j] = parseInt(a[i][j]);
|
2712
|
+
if (a[i][10] >= min_seg_len) a[k++] = a[i];
|
2713
|
+
}
|
2714
|
+
a.length = k;
|
2715
|
+
if (a.length == 1) return;
|
2716
|
+
a = a.sort(function(x,y){return x[2]-y[2]});
|
2717
|
+
if (show_long) for (var i = 0; i < a.length; ++i) print(a[i].join("\t"));
|
2718
|
+
for (var i = 1; i < a.length; ++i) {
|
2719
|
+
var ov = [false, false];
|
2720
|
+
ov[0] = test_cen(cen, a[i-1][5], a[i-1][7], a[i-1][8]);
|
2721
|
+
ov[1] = test_cen(cen, a[i][5], a[i][7], a[i][8]);
|
2722
|
+
if (a[i-1][5] != a[i][5]) { // different chr
|
2723
|
+
if (ov[0] || ov[1]) ++n_diff[1];
|
2724
|
+
else if (show_err) {
|
2725
|
+
print("J", a[i-1].slice(0, 12).join("\t"));
|
2726
|
+
print("J", a[i].slice(0, 12).join("\t"));
|
2727
|
+
}
|
2728
|
+
++n_diff[0];
|
2729
|
+
} else if (a[i-1][4] == a[i][4]) { // a gap
|
2730
|
+
var dq = a[i][2] - a[i-1][3];
|
2731
|
+
var dr = a[i][4] == '+'? a[i][7] - a[i-1][8] : a[i-1][7] - a[i][8];
|
2732
|
+
var gap = dr > dq? dr - dq : dq - dr;
|
2733
|
+
if (gap > max_gap) {
|
2734
|
+
if (ov[0] || ov[1]) ++n_gap[1];
|
2735
|
+
else if (show_err) {
|
2736
|
+
print("G", a[i-1].slice(0, 12).join("\t"));
|
2737
|
+
print("G", a[i].slice(0, 12).join("\t"));
|
2738
|
+
}
|
2739
|
+
++n_gap[0];
|
2740
|
+
}
|
2741
|
+
} else if (i + 1 < a.length && a[i+1][4] == a[i-1][4]) { // bracketed inversion
|
2742
|
+
if (ov[0] || ov[1]) ++n_inv[1];
|
2743
|
+
else if (show_err) {
|
2744
|
+
print("M", a[i-1].slice(0, 12).join("\t"));
|
2745
|
+
print("M", a[i].slice(0, 12).join("\t"));
|
2746
|
+
print("M", a[i+1].slice(0, 12).join("\t"));
|
2747
|
+
}
|
2748
|
+
++n_inv[0];
|
2749
|
+
++i;
|
2750
|
+
} else { // hanging inversion
|
2751
|
+
if (ov[0] || ov[1]) ++n_inv_end[1];
|
2752
|
+
++n_inv_end[0];
|
2753
|
+
}
|
2754
|
+
}
|
2755
|
+
}
|
2756
|
+
|
2757
|
+
file = args[getopt.ind] == "-"? new File() : new File(args[getopt.ind]);
|
2758
|
+
var a = [];
|
2759
|
+
while (file.readline(buf) >= 0) {
|
2760
|
+
var t = buf.toString().split("\t");
|
2761
|
+
if (a.length > 0 && a[0][0] != t[0]) {
|
2762
|
+
process(a);
|
2763
|
+
a.length = 0;
|
2764
|
+
}
|
2765
|
+
a.push(t);
|
2766
|
+
}
|
2767
|
+
if (a.length > 0) process(a);
|
2768
|
+
file.close();
|
2769
|
+
buf.destroy();
|
2770
|
+
print("# inter-chromosomal misjoins: " + n_diff.join(","));
|
2771
|
+
print("# intra-chromosomal gaps: " + n_gap.join(","));
|
2772
|
+
print("# candidate inversions in the middle: " + n_inv.join(","));
|
2773
|
+
print("# candidate inversions at contig ends: " + n_inv_end.join(","));
|
2774
|
+
}
|
2775
|
+
|
2776
|
+
function _paf_get_alen(t)
|
2777
|
+
{
|
2778
|
+
var svlen = null, alen = null;
|
2779
|
+
if ((m = /(^|;)SVLEN=(-?\d+)/.exec(t[7])) != null)
|
2780
|
+
svlen = parseInt(m[2]);
|
2781
|
+
var s = t[4].split(",");
|
2782
|
+
var min_abs_diff = 1<<30, max_abs_diff = 0;
|
2783
|
+
if (svlen != null && svlen != 0)
|
2784
|
+
alen = svlen, min_abs_diff = max_abs_diff = svlen > 0? svlen : -svlen;
|
2785
|
+
var rlen = t[3].length;
|
2786
|
+
for (var i = 0; i < s.length; ++i) {
|
2787
|
+
if (/^<\S+>$/.test(s[i])) continue;
|
2788
|
+
var diff = s[i].length - rlen;
|
2789
|
+
var abs_diff = diff > 0? diff : -diff;
|
2790
|
+
min_abs_diff = min_abs_diff < abs_diff? min_abs_diff : abs_diff;
|
2791
|
+
if (max_abs_diff < abs_diff)
|
2792
|
+
max_abs_diff = abs_diff, alen = diff;
|
2793
|
+
}
|
2794
|
+
return [alen, min_abs_diff, max_abs_diff];
|
2795
|
+
}
|
2796
|
+
|
2797
|
+
function paf_sveval(args)
|
2798
|
+
{
|
2799
|
+
var c, min_flt = 30, min_size = 50, max_size = 100000, win_size = 500, print_err = false, print_match = false, bed_fn = null;
|
2800
|
+
var len_diff_ratio = 0.5;
|
2801
|
+
while ((c = getopt(args, "f:i:x:w:er:pd:")) != null) {
|
2802
|
+
if (c == 'f') min_flt = paf_parseNum(getopt.arg);
|
2803
|
+
else if (c == 'i') min_size = paf_parseNum(getopt.arg);
|
2804
|
+
else if (c == 'x') max_size = paf_parseNum(getopt.arg);
|
2805
|
+
else if (c == 'w') win_size = paf_parseNum(getopt.arg);
|
2806
|
+
else if (c == 'd') len_diff_ratio = parseFloat(getopt.arg);
|
2807
|
+
else if (c == 'r') bed_fn = getopt.arg;
|
2808
|
+
else if (c == 'e') print_err = true;
|
2809
|
+
else if (c == 'p') print_match = true;
|
2810
|
+
}
|
2811
|
+
if (args.length - getopt.ind < 2) {
|
2812
|
+
print("Usage: paftools.js sveval [options] <base.vcf> <call.vcf>");
|
2813
|
+
print("Options:");
|
2814
|
+
print(" -r FILE confident region in BED []");
|
2815
|
+
print(" -f INT min length to discard [" + min_flt + "]");
|
2816
|
+
print(" -i INT min SV length [" + min_size + "]");
|
2817
|
+
print(" -x INT max SV length [" + max_size + "]");
|
2818
|
+
print(" -w INT fuzzy windown size [" + win_size + "]");
|
2819
|
+
print(" -d FLOAT max allele diff if there is a single allele in the window [" + len_diff_ratio + "]");
|
2820
|
+
print(" -e print errors");
|
2821
|
+
return;
|
2822
|
+
}
|
2823
|
+
|
2824
|
+
function read_bed(fn) {
|
2825
|
+
var buf = new Bytes();
|
2826
|
+
var file = new File(fn);
|
2827
|
+
var bed = {};
|
2828
|
+
while (file.readline(buf) >= 0) {
|
2829
|
+
var t = buf.toString().split("\t");
|
2830
|
+
if (bed[t[0]] == null) bed[t[0]] = [];
|
2831
|
+
bed[t[0]].push([parseInt(t[1]), parseInt(t[2])]);
|
2832
|
+
}
|
2833
|
+
file.close();
|
2834
|
+
buf.destroy();
|
2835
|
+
for (var x in bed) {
|
2836
|
+
Interval.sort(bed[x]);
|
2837
|
+
Interval.merge(bed[x]);
|
2838
|
+
Interval.index_end(bed[x]);
|
2839
|
+
}
|
2840
|
+
return bed;
|
2841
|
+
}
|
2842
|
+
|
2843
|
+
var bed = bed_fn != null? read_bed(bed_fn) : null;
|
2844
|
+
|
2845
|
+
function read_vcf(fn, bed) {
|
2846
|
+
var buf = new Bytes();
|
2847
|
+
var file = new File(fn);
|
2848
|
+
var v = {};
|
2849
|
+
while (file.readline(buf) >= 0) {
|
2850
|
+
var m, t = buf.toString().split("\t");
|
2851
|
+
if (t[0][0] == '#') continue;
|
2852
|
+
if (bed != null && bed[t[0]] == null) continue;
|
2853
|
+
if (t[4] == '<INV>' || t[4] == '<INVDUP>') continue; // no inversion
|
2854
|
+
if (/[\[\]]/.test(t[4])) continue; // no break points
|
2855
|
+
var st = parseInt(t[1]) - 1, en = st + t[3].length;
|
2856
|
+
// parse svlen
|
2857
|
+
var b = _paf_get_alen(t), svlen = b[0];
|
2858
|
+
var abslen = svlen == null? 0 : svlen > 0? svlen : -svlen;
|
2859
|
+
if (abslen < min_flt || abslen > max_size) continue;
|
2860
|
+
// update end
|
2861
|
+
if ((m = /(^|;)END=(\d+)/.exec(t[7])) != null)
|
2862
|
+
en = parseInt(m[2]);
|
2863
|
+
else if (svlen != null && svlen < 0)
|
2864
|
+
en = st + (-svlen);
|
2865
|
+
if (en < st) en = st;
|
2866
|
+
if (st == en) --st, ++en;
|
2867
|
+
if (bed != null && Interval.find_ovlp(bed[t[0]], st, en).length == 0) continue;
|
2868
|
+
// insert
|
2869
|
+
if (v[t[0]] == null) v[t[0]] = [];
|
2870
|
+
v[t[0]].push([st, en, svlen, abslen]);
|
2871
|
+
}
|
2872
|
+
file.close();
|
2873
|
+
buf.destroy();
|
2874
|
+
for (var x in v) {
|
2875
|
+
Interval.sort(v[x]);
|
2876
|
+
Interval.index_end(v[x]);
|
2877
|
+
}
|
2878
|
+
return v;
|
2879
|
+
}
|
2880
|
+
|
2881
|
+
function compare_vcf(v0, v1, label) {
|
2882
|
+
var m = 0, n = 0;
|
2883
|
+
for (var x in v1) {
|
2884
|
+
var a1 = v1[x], a0 = v0[x];
|
2885
|
+
for (var i = 0; i < a1.length; ++i) {
|
2886
|
+
if (a1[i][3] < min_size) continue;
|
2887
|
+
++n;
|
2888
|
+
if (a0 == null) continue;
|
2889
|
+
var ws = win_size + (a1[i][3]>>1);
|
2890
|
+
var st = a1[i][0] > ws? a1[i][0] - ws : 0;
|
2891
|
+
b = Interval.find_ovlp(a0, st, a1[i][1] + ws);
|
2892
|
+
var n_ins = 0, n_del = 0, sv_del = null, sv_ins = null;
|
2893
|
+
for (var j = 0; j < b.length; ++j) {
|
2894
|
+
if (b[j][2] < 0) ++n_del, sv_del = -b[j][2];
|
2895
|
+
else if (b[j][2] > 0) ++n_ins, sv_ins = b[j][2];
|
2896
|
+
if (print_match)
|
2897
|
+
print("MA", x, a1[i].slice(0, 3).join("\t"), b[j].slice(0, 3).join("\t"));
|
2898
|
+
}
|
2899
|
+
var match = false;
|
2900
|
+
if (a1[i][2] > 0) { // insertion
|
2901
|
+
if (n_ins == 1) {
|
2902
|
+
var diff = sv_ins - a1[i][3];
|
2903
|
+
if (diff < 0) diff = -diff;
|
2904
|
+
if (diff < min_size || diff / a1[i][3] < len_diff_ratio)
|
2905
|
+
match = true;
|
2906
|
+
} else if (n_ins > 1) match = true; // multiple insertions; ambiguous
|
2907
|
+
} else if (a1[i][2] < 0) {
|
2908
|
+
if (n_del == 1) { // deletion
|
2909
|
+
var diff = sv_del - a1[i][3];
|
2910
|
+
if (diff < 0) diff = -diff;
|
2911
|
+
if (diff < min_size || diff / a1[i][3] < len_diff_ratio)
|
2912
|
+
match = true;
|
2913
|
+
} else if (n_del > 1) match = true; // multiple deletions; ambiguous
|
2914
|
+
}
|
2915
|
+
if (match) ++m;
|
2916
|
+
else if (print_err) {
|
2917
|
+
if ((a1[i][2] > 0 && n_ins > 0) || (a1[i][2] < 0 && n_del > 0))
|
2918
|
+
print("MM", x, a1[i].slice(0, 3).join("\t"));
|
2919
|
+
print(label, x, a1[i].slice(0, 3).join("\t"));
|
2920
|
+
}
|
2921
|
+
}
|
2922
|
+
}
|
2923
|
+
return [n, m];
|
2924
|
+
}
|
2925
|
+
|
2926
|
+
var v_base = read_vcf(args[getopt.ind+0], bed);
|
2927
|
+
var v_call = read_vcf(args[getopt.ind+1], bed);
|
2928
|
+
var fn = compare_vcf(v_call, v_base, 'FN');
|
2929
|
+
var fp = compare_vcf(v_base, v_call, 'FP');
|
2930
|
+
print('SN', fn[0], fn[1], (fn[1] / fn[0]).toFixed(6));
|
2931
|
+
print('PC', fp[0], fp[1], (fp[1] / fp[0]).toFixed(6));
|
2932
|
+
print('F1', ((fn[1] / fn[0] + fp[1] / fp[0]) / 2).toFixed(6));
|
2933
|
+
}
|
2934
|
+
|
2935
|
+
function paf_vcfsel(args)
|
2936
|
+
{
|
2937
|
+
var c, min_l = 0, max_l = 1<<30;
|
2938
|
+
while ((c = getopt(args, "l:L:")) != null) {
|
2939
|
+
if (c == 'l') min_l = parseInt(getopt.arg);
|
2940
|
+
else if (c == 'L') max_l = parseInt(getopt.arg);
|
2941
|
+
}
|
2942
|
+
|
2943
|
+
var buf = new Bytes();
|
2944
|
+
if (getopt.ind == args.length) {
|
2945
|
+
print("Usage: paftools.js vcfsel [options] <in.vcf>");
|
2946
|
+
return 1;
|
2947
|
+
}
|
2948
|
+
var file = args[getopt.ind] == "-"? new File() : new File(args[getopt.ind]);
|
2949
|
+
while (file.readline(buf) >= 0) {
|
2950
|
+
var m, line = buf.toString();
|
2951
|
+
if (line[0] == '#') {
|
2952
|
+
print(line);
|
2953
|
+
continue;
|
2954
|
+
}
|
2955
|
+
var t = line.split("\t");
|
2956
|
+
var st = parseInt(t[1]), en = st + t[3].length - 1;
|
2957
|
+
if ((m = /(^|;)END=(\d+)/.exec(t[7])) != null)
|
2958
|
+
en = parseInt(m[2]);
|
2959
|
+
if (en < st) {
|
2960
|
+
warn("END is smaller than POS: " + en + " < " + st);
|
2961
|
+
en = st;
|
2962
|
+
}
|
2963
|
+
var b = _paf_get_alen(t);
|
2964
|
+
var alen = b[0], min_abs_diff = b[1], max_abs_diff = b[2];
|
2965
|
+
if (max_abs_diff < min_l || min_abs_diff > max_l)
|
2966
|
+
continue;
|
2967
|
+
print(line);
|
2968
|
+
}
|
2969
|
+
file.close();
|
2970
|
+
buf.destroy();
|
2971
|
+
}
|
2972
|
+
|
2973
|
+
function paf_pafcmp(args)
|
2974
|
+
{
|
2975
|
+
var c, opt = { min_len:5000, min_mapq:10, min_ovlp:0.5 };
|
2976
|
+
while ((c = getopt(args, "q:")) != null) {
|
2977
|
+
if (c == 'q') opt.min_mapq = parseInt(getopt.arg);
|
2978
|
+
}
|
2979
|
+
|
2980
|
+
var buf = new Bytes();
|
2981
|
+
if (args.length - getopt.ind < 2) {
|
2982
|
+
print("Usage: paftools.js pafcmp [options] <base.paf> <test.paf>");
|
2983
|
+
print("Options:");
|
2984
|
+
print(" -q INT min mapping quality [" + opt.min_mapq + "]");
|
2985
|
+
return 1;
|
2986
|
+
}
|
2987
|
+
|
2988
|
+
var eval = { n_base:0, n_test:0, n_out_high:0, n_out_low:0, n_hit:0, n_wrong:0, n_miss:0 };
|
2989
|
+
|
2990
|
+
function process_base(base, a) {
|
2991
|
+
if (a.length != 1) return;
|
2992
|
+
for (var i = 1; i < 4; ++i)
|
2993
|
+
a[0][i] = parseInt(a[0][i]);
|
2994
|
+
for (var i = 6; i < 12; ++i)
|
2995
|
+
a[0][i] = parseInt(a[0][i]);
|
2996
|
+
if (a[0][1] < opt.min_len) return;
|
2997
|
+
if (a[0][11] >= opt.min_mapq) ++eval.n_base;
|
2998
|
+
base[a[0][0]] = [a[0][5], a[0][7], a[0][8], a[0][11], 0, 0];
|
2999
|
+
}
|
3000
|
+
|
3001
|
+
var file = new File(args[getopt.ind]);
|
3002
|
+
warn("Reading " + args[getopt.ind] + "...");
|
3003
|
+
var a = [], base = {};
|
3004
|
+
while (file.readline(buf) >= 0) {
|
3005
|
+
var line = buf.toString();
|
3006
|
+
var t = line.split("\t");
|
3007
|
+
if (/\ttp:A:S/.test(line)) continue;
|
3008
|
+
if (a.length > 0 && a[0][0] != t[0]) {
|
3009
|
+
process_base(base, a);
|
3010
|
+
a = [];
|
3011
|
+
}
|
3012
|
+
a.push(t);
|
3013
|
+
}
|
3014
|
+
process_base(base, a);
|
3015
|
+
file.close();
|
3016
|
+
|
3017
|
+
function process_test(base, a) {
|
3018
|
+
for (var i = 1; i < 4; ++i)
|
3019
|
+
a[0][i] = parseInt(a[0][i]);
|
3020
|
+
for (var i = 6; i < 12; ++i)
|
3021
|
+
a[0][i] = parseInt(a[0][i]);
|
3022
|
+
if (a[0][1] < opt.min_len) return;
|
3023
|
+
if (a[0][11] >= opt.min_mapq) ++eval.n_test;
|
3024
|
+
var c = [a[0][5], a[0][7], a[0][8], a[0][11]];
|
3025
|
+
if (base[a[0][0]] == null) {
|
3026
|
+
if (c[3] >= opt.min_mapq) ++opt.n_out_high;
|
3027
|
+
else ++opt.n_out_low;
|
3028
|
+
} else {
|
3029
|
+
var b = base[a[0][0]];
|
3030
|
+
var inter = 0, union = (b[2] - b[1]) + (c[2] - c[1]);
|
3031
|
+
if (b[0] == c[0]) { // same chr
|
3032
|
+
if (b[1] < c[1]) {
|
3033
|
+
if (b[2] > c[1])
|
3034
|
+
inter = b[2] - c[1], union = c[2] - b[1];
|
3035
|
+
} else { // c[1] < b[1]
|
3036
|
+
if (c[2] > b[1])
|
3037
|
+
inter = c[2] - b[1], union = b[2] - c[1];
|
3038
|
+
}
|
3039
|
+
}
|
3040
|
+
if (inter >= union * opt.min_ovlp) {
|
3041
|
+
if (b[3] >= opt.min_mapq) ++eval.n_hit;
|
3042
|
+
++b[4];
|
3043
|
+
} else {
|
3044
|
+
if (b[3] >= opt.min_mapq) {
|
3045
|
+
print("W", a[0][0], b.slice(0, 4).join("\t"), c.join("\t"));
|
3046
|
+
++eval.n_wrong;
|
3047
|
+
}
|
3048
|
+
++b[5];
|
3049
|
+
}
|
3050
|
+
}
|
3051
|
+
}
|
3052
|
+
|
3053
|
+
file = new File(args[getopt.ind+1]);
|
3054
|
+
warn("Reading " + args[getopt.ind+1] + "...");
|
3055
|
+
a = [];
|
3056
|
+
while (file.readline(buf) >= 0) {
|
3057
|
+
var line = buf.toString();
|
3058
|
+
var t = line.split("\t");
|
3059
|
+
if (/\ttp:A:S/.test(line)) continue;
|
3060
|
+
if (a.length > 0 && a[0][0] != t[0]) {
|
3061
|
+
process_test(base, a);
|
3062
|
+
a = [];
|
3063
|
+
}
|
3064
|
+
a.push(t);
|
3065
|
+
}
|
3066
|
+
process_test(base, a);
|
3067
|
+
file.close();
|
3068
|
+
|
3069
|
+
for (var r in base) {
|
3070
|
+
var b = base[r];
|
3071
|
+
if (b[3] >= opt.min_mapq && b[4] == 0 && b[5] == 0) {
|
3072
|
+
++eval.n_miss;
|
3073
|
+
print("M", r, b.slice(0, 4).join("\t"));
|
3074
|
+
}
|
3075
|
+
}
|
3076
|
+
|
3077
|
+
print("X", eval.n_base + " base alignments with mapQ>=" + opt.min_mapq);
|
3078
|
+
// print("X", eval.n_test + " test alignments with mapQ>=" + opt.min_mapq);
|
3079
|
+
print("X", eval.n_hit + " base alignments correctly mapped by test");
|
3080
|
+
print("X", eval.n_wrong + " wrong test alignment");
|
3081
|
+
print("X", eval.n_miss + " base alignments missing");
|
3082
|
+
print("X", eval.n_out_high + " additional test alignments with mapQ>=" + opt.min_mapq);
|
3083
|
+
|
3084
|
+
buf.destroy();
|
3085
|
+
}
|
3086
|
+
|
3087
|
+
/*************************
|
3088
|
+
***** main function *****
|
3089
|
+
*************************/
|
3090
|
+
|
3091
|
+
function main(args)
|
3092
|
+
{
|
3093
|
+
if (args.length == 0) {
|
3094
|
+
print("Usage: paftools.js <command> [arguments]");
|
3095
|
+
print("Commands:");
|
3096
|
+
print(" view convert PAF to BLAST-like (for eyeballing) or MAF");
|
3097
|
+
print(" splice2bed convert spliced alignment in PAF/SAM to BED12");
|
3098
|
+
print(" sam2paf convert SAM to PAF");
|
3099
|
+
print(" delta2paf convert MUMmer's delta to PAF");
|
3100
|
+
print(" gff2bed convert GTF/GFF3 to BED12");
|
3101
|
+
print("");
|
3102
|
+
print(" stat collect basic mapping information in PAF/SAM");
|
3103
|
+
print(" asmstat collect basic assembly information");
|
3104
|
+
print(" asmgene evaluate gene completeness");
|
3105
|
+
print(" misjoin evaluate large-scale misjoins");
|
3106
|
+
print(" liftover simplistic liftOver");
|
3107
|
+
print(" call call variants from asm-to-ref alignment with the cs tag");
|
3108
|
+
print(" bedcov compute the number of bases covered");
|
3109
|
+
print(" vcfstat VCF statistics");
|
3110
|
+
print(" sveval compare two SV callsets in VCF");
|
3111
|
+
print(" version print paftools.js version");
|
3112
|
+
print("");
|
3113
|
+
print(" mapeval evaluate mapping accuracy using mason2/PBSIM-simulated FASTQ");
|
3114
|
+
print(" pafcmp compare two PAF files");
|
3115
|
+
print(" mason2fq convert mason2-simulated SAM to FASTQ");
|
3116
|
+
print(" pbsim2fq convert PBSIM-simulated MAF to FASTQ");
|
3117
|
+
print(" junceval evaluate splice junction consistency with known annotations");
|
3118
|
+
print(" ov-eval evaluate read overlap sensitivity using read-to-ref mapping");
|
3119
|
+
exit(1);
|
3120
|
+
}
|
3121
|
+
|
3122
|
+
var cmd = args.shift();
|
3123
|
+
if (cmd == 'view') paf_view(args);
|
3124
|
+
else if (cmd == 'sam2paf') paf_sam2paf(args);
|
3125
|
+
else if (cmd == 'delta2paf') paf_delta2paf(args);
|
3126
|
+
else if (cmd == 'splice2bed') paf_splice2bed(args);
|
3127
|
+
else if (cmd == 'gff2bed') paf_gff2bed(args);
|
3128
|
+
else if (cmd == 'stat') paf_stat(args);
|
3129
|
+
else if (cmd == 'asmstat') paf_asmstat(args);
|
3130
|
+
else if (cmd == 'asmgene') paf_asmgene(args);
|
3131
|
+
else if (cmd == 'misjoin') paf_misjoin(args);
|
3132
|
+
else if (cmd == 'liftover' || cmd == 'liftOver') paf_liftover(args);
|
3133
|
+
else if (cmd == 'vcfpair') paf_vcfpair(args);
|
3134
|
+
else if (cmd == 'call') paf_call(args);
|
3135
|
+
else if (cmd == 'mapeval') paf_mapeval(args);
|
3136
|
+
else if (cmd == 'pafcmp') paf_pafcmp(args);
|
3137
|
+
else if (cmd == 'bedcov') paf_bedcov(args);
|
3138
|
+
else if (cmd == 'mason2fq') paf_mason2fq(args);
|
3139
|
+
else if (cmd == 'pbsim2fq') paf_pbsim2fq(args);
|
3140
|
+
else if (cmd == 'junceval') paf_junceval(args);
|
3141
|
+
else if (cmd == 'ov-eval') paf_ov_eval(args);
|
3142
|
+
else if (cmd == 'vcfstat') paf_vcfstat(args);
|
3143
|
+
else if (cmd == 'sveval') paf_sveval(args);
|
3144
|
+
else if (cmd == 'vcfsel') paf_vcfsel(args);
|
3145
|
+
else if (cmd == 'version') print(paftools_version);
|
3146
|
+
else throw Error("unrecognized command: " + cmd);
|
3147
|
+
}
|
3148
|
+
|
3149
|
+
main(arguments);
|