minimap2 0.2.21 → 0.2.24.0

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Files changed (101) hide show
  1. checksums.yaml +4 -4
  2. data/README.md +60 -76
  3. data/ext/Rakefile +53 -0
  4. data/ext/cmappy/cmappy.c +129 -0
  5. data/ext/cmappy/cmappy.h +44 -0
  6. data/ext/minimap2/FAQ.md +46 -0
  7. data/ext/minimap2/LICENSE.txt +24 -0
  8. data/ext/minimap2/MANIFEST.in +10 -0
  9. data/ext/minimap2/Makefile +132 -0
  10. data/ext/minimap2/Makefile.simde +97 -0
  11. data/ext/minimap2/NEWS.md +821 -0
  12. data/ext/minimap2/README.md +403 -0
  13. data/ext/minimap2/align.c +1020 -0
  14. data/ext/minimap2/bseq.c +169 -0
  15. data/ext/minimap2/bseq.h +64 -0
  16. data/ext/minimap2/code_of_conduct.md +30 -0
  17. data/ext/minimap2/cookbook.md +243 -0
  18. data/ext/minimap2/esterr.c +64 -0
  19. data/ext/minimap2/example.c +63 -0
  20. data/ext/minimap2/format.c +559 -0
  21. data/ext/minimap2/hit.c +466 -0
  22. data/ext/minimap2/index.c +775 -0
  23. data/ext/minimap2/kalloc.c +205 -0
  24. data/ext/minimap2/kalloc.h +76 -0
  25. data/ext/minimap2/kdq.h +132 -0
  26. data/ext/minimap2/ketopt.h +120 -0
  27. data/ext/minimap2/khash.h +615 -0
  28. data/ext/minimap2/krmq.h +474 -0
  29. data/ext/minimap2/kseq.h +256 -0
  30. data/ext/minimap2/ksort.h +153 -0
  31. data/ext/minimap2/ksw2.h +184 -0
  32. data/ext/minimap2/ksw2_dispatch.c +96 -0
  33. data/ext/minimap2/ksw2_extd2_sse.c +402 -0
  34. data/ext/minimap2/ksw2_exts2_sse.c +416 -0
  35. data/ext/minimap2/ksw2_extz2_sse.c +313 -0
  36. data/ext/minimap2/ksw2_ll_sse.c +152 -0
  37. data/ext/minimap2/kthread.c +159 -0
  38. data/ext/minimap2/kthread.h +15 -0
  39. data/ext/minimap2/kvec.h +105 -0
  40. data/ext/minimap2/lchain.c +369 -0
  41. data/ext/minimap2/main.c +459 -0
  42. data/ext/minimap2/map.c +714 -0
  43. data/ext/minimap2/minimap.h +410 -0
  44. data/ext/minimap2/minimap2.1 +725 -0
  45. data/ext/minimap2/misc/README.md +179 -0
  46. data/ext/minimap2/misc/mmphase.js +335 -0
  47. data/ext/minimap2/misc/paftools.js +3149 -0
  48. data/ext/minimap2/misc.c +162 -0
  49. data/ext/minimap2/mmpriv.h +132 -0
  50. data/ext/minimap2/options.c +234 -0
  51. data/ext/minimap2/pe.c +177 -0
  52. data/ext/minimap2/python/README.rst +196 -0
  53. data/ext/minimap2/python/cmappy.h +152 -0
  54. data/ext/minimap2/python/cmappy.pxd +153 -0
  55. data/ext/minimap2/python/mappy.pyx +273 -0
  56. data/ext/minimap2/python/minimap2.py +39 -0
  57. data/ext/minimap2/sdust.c +213 -0
  58. data/ext/minimap2/sdust.h +25 -0
  59. data/ext/minimap2/seed.c +131 -0
  60. data/ext/minimap2/setup.py +55 -0
  61. data/ext/minimap2/sketch.c +143 -0
  62. data/ext/minimap2/splitidx.c +84 -0
  63. data/ext/minimap2/sse2neon/emmintrin.h +1689 -0
  64. data/ext/minimap2/test/MT-human.fa +278 -0
  65. data/ext/minimap2/test/MT-orang.fa +276 -0
  66. data/ext/minimap2/test/q-inv.fa +4 -0
  67. data/ext/minimap2/test/q2.fa +2 -0
  68. data/ext/minimap2/test/t-inv.fa +127 -0
  69. data/ext/minimap2/test/t2.fa +2 -0
  70. data/ext/minimap2/tex/Makefile +21 -0
  71. data/ext/minimap2/tex/bioinfo.cls +930 -0
  72. data/ext/minimap2/tex/blasr-mc.eval +17 -0
  73. data/ext/minimap2/tex/bowtie2-s3.sam.eval +28 -0
  74. data/ext/minimap2/tex/bwa-s3.sam.eval +52 -0
  75. data/ext/minimap2/tex/bwa.eval +55 -0
  76. data/ext/minimap2/tex/eval2roc.pl +33 -0
  77. data/ext/minimap2/tex/graphmap.eval +4 -0
  78. data/ext/minimap2/tex/hs38-simu.sh +10 -0
  79. data/ext/minimap2/tex/minialign.eval +49 -0
  80. data/ext/minimap2/tex/minimap2.bib +460 -0
  81. data/ext/minimap2/tex/minimap2.tex +724 -0
  82. data/ext/minimap2/tex/mm2-s3.sam.eval +62 -0
  83. data/ext/minimap2/tex/mm2-update.tex +240 -0
  84. data/ext/minimap2/tex/mm2.approx.eval +12 -0
  85. data/ext/minimap2/tex/mm2.eval +13 -0
  86. data/ext/minimap2/tex/natbib.bst +1288 -0
  87. data/ext/minimap2/tex/natbib.sty +803 -0
  88. data/ext/minimap2/tex/ngmlr.eval +38 -0
  89. data/ext/minimap2/tex/roc.gp +60 -0
  90. data/ext/minimap2/tex/snap-s3.sam.eval +62 -0
  91. data/ext/minimap2.patch +19 -0
  92. data/lib/minimap2/aligner.rb +4 -4
  93. data/lib/minimap2/alignment.rb +11 -11
  94. data/lib/minimap2/ffi/constants.rb +75 -56
  95. data/lib/minimap2/ffi/functions.rb +5 -0
  96. data/lib/minimap2/ffi.rb +4 -5
  97. data/lib/minimap2/version.rb +2 -2
  98. data/lib/minimap2.rb +80 -28
  99. metadata +97 -65
  100. data/lib/minimap2/ffi_helper.rb +0 -53
  101. data/vendor/libminimap2.so +0 -0
@@ -0,0 +1,3149 @@
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+ #!/usr/bin/env k8
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+
3
+ var paftools_version = '2.24-r1122';
4
+
5
+ /*****************************
6
+ ***** Library functions *****
7
+ *****************************/
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+
9
+ /*******************************
10
+ * Command line option parsing *
11
+ *******************************/
12
+
13
+ var getopt = function(args, ostr) {
14
+ var oli; // option letter list index
15
+ if (typeof(getopt.place) == 'undefined')
16
+ getopt.ind = 0, getopt.arg = null, getopt.place = -1;
17
+ if (getopt.place == -1) { // update scanning pointer
18
+ if (getopt.ind >= args.length || args[getopt.ind].charAt(getopt.place = 0) != '-') {
19
+ getopt.place = -1;
20
+ return null;
21
+ }
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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;
26
+ }
27
+ }
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+ var optopt = args[getopt.ind].charAt(getopt.place++); // character checked for validity
29
+ if (optopt == ':' || (oli = ostr.indexOf(optopt)) < 0) {
30
+ if (optopt == '-') return null; // if the user didn't specify '-' as an option, assume it means null.
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+ if (getopt.place < 0) ++getopt.ind;
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+ return '?';
33
+ }
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+ if (oli+1 >= ostr.length || ostr.charAt(++oli) != ':') { // don't need argument
35
+ getopt.arg = null;
36
+ if (getopt.place < 0 || getopt.place >= args[getopt.ind].length) ++getopt.ind, getopt.place = -1;
37
+ } 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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+
51
+ /***********************
52
+ * Interval operations *
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+ ***********************/
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+
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+ Interval = {};
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+
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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] });
62
+ }
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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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+ for (var i = 1; i < a.length; ++i) {
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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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+ }
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+ a.length = k + 1;
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+ }
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+
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+ Interval.index_end = function(a, sorted)
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+ {
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+ if (a.length == 0) return;
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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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+ if (k_en <= a[i][0]) {
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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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+
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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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+ if (typeof a[0] == 'number') {
99
+ while (right - left > 1) {
100
+ var mid = left + ((right - left) >> 1);
101
+ if (a[mid] > x) right = mid;
102
+ else if (a[mid] < x) left = mid;
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+ else return mid;
104
+ }
105
+ } else {
106
+ while (right - left > 1) {
107
+ var mid = left + ((right - left) >> 1);
108
+ if (a[mid][0] > x) right = mid;
109
+ else if (a[mid][0] < x) left = mid;
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+ else return mid;
111
+ }
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+ }
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+ return left;
114
+ }
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+
116
+ Interval.find_ovlp = function(a, st, en)
117
+ {
118
+ if (a.length == 0 || st >= en) return [];
119
+ var l = Interval.find_intv(a, st);
120
+ var k = l < 0? 0 : a[l][a[l].length - 1];
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+ var b = [];
122
+ for (var i = k; i < a.length; ++i) {
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+ if (a[i][0] >= en) break;
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+ else if (st < a[i][1])
125
+ b.push(a[i]);
126
+ }
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+ return b;
128
+ }
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+
130
+ /**********************************
131
+ * Reverse and reverse complement *
132
+ **********************************/
133
+
134
+ function fasta_read(fn)
135
+ {
136
+ var h = {}, gt = '>'.charCodeAt(0);
137
+ var file = fn == '-'? new File() : new File(fn);
138
+ var buf = new Bytes(), seq = null, name = null, seqlen = [];
139
+ while (file.readline(buf) >= 0) {
140
+ if (buf[0] == gt) {
141
+ if (seq != null && name != null) {
142
+ seqlen.push([name, seq.length]);
143
+ h[name] = seq;
144
+ name = seq = null;
145
+ }
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+ var m, line = buf.toString();
147
+ if ((m = /^>(\S+)/.exec(line)) != null) {
148
+ name = m[1];
149
+ seq = new Bytes();
150
+ }
151
+ } else seq.set(buf);
152
+ }
153
+ if (seq != null && name != null) {
154
+ seqlen.push([name, seq.length]);
155
+ h[name] = seq;
156
+ }
157
+ buf.destroy();
158
+ file.close();
159
+ return [h, seqlen];
160
+ }
161
+
162
+ function fasta_free(fa)
163
+ {
164
+ for (var name in fa)
165
+ fa[name].destroy();
166
+ }
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+
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+ Bytes.prototype.reverse = function()
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+ {
170
+ for (var i = 0; i < this.length>>1; ++i) {
171
+ var tmp = this[i];
172
+ this[i] = this[this.length - i - 1];
173
+ this[this.length - i - 1] = tmp;
174
+ }
175
+ }
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+
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+ // reverse complement a DNA string
178
+ Bytes.prototype.revcomp = function()
179
+ {
180
+ if (Bytes.rctab == null) {
181
+ var s1 = 'WSATUGCYRKMBDHVNwsatugcyrkmbdhvn';
182
+ var s2 = 'WSTAACGRYMKVHDBNwstaacgrymkvhdbn';
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+ Bytes.rctab = [];
184
+ for (var i = 0; i < 256; ++i) Bytes.rctab[i] = 0;
185
+ for (var i = 0; i < s1.length; ++i)
186
+ Bytes.rctab[s1.charCodeAt(i)] = s2.charCodeAt(i);
187
+ }
188
+ for (var i = 0; i < this.length>>1; ++i) {
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+ var tmp = this[this.length - i - 1];
190
+ this[this.length - i - 1] = Bytes.rctab[this[i]];
191
+ this[i] = Bytes.rctab[tmp];
192
+ }
193
+ if (this.length&1)
194
+ this[this.length>>1] = Bytes.rctab[this[this.length>>1]];
195
+ }
196
+
197
+ /********************
198
+ ***** paftools *****
199
+ ********************/
200
+
201
+ /*****************
202
+ * Miscellaneous *
203
+ *****************/
204
+
205
+ // liftover
206
+ function paf_liftover(args)
207
+ {
208
+ function read_bed(fn, to_merge)
209
+ {
210
+ if (fn == null) return null;
211
+ if (typeof to_merge == 'undefined') to_merge = true;
212
+ var file = fn == '-'? new File() : new File(fn);
213
+ var buf = new Bytes();
214
+ var bed = {};
215
+ while (file.readline(buf) >= 0) {
216
+ var t = buf.toString().split("\t");
217
+ if (bed[t[0]] == null) bed[t[0]] = [];
218
+ bed[t[0]].push([parseInt(t[1]), parseInt(t[2])]);
219
+ }
220
+ buf.destroy();
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+ file.close();
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+
223
+ for (var chr in bed) {
224
+ Interval.sort(bed[chr]);
225
+ if (to_merge)
226
+ Interval.merge(bed[chr], true);
227
+ Interval.index_end(bed[chr], true);
228
+ }
229
+ return bed;
230
+ }
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+
232
+ var re_cigar = /(\d+)([MID])/g, re_tag = /^(\S\S):([AZif]):(\S+)$/;
233
+ var c, to_merge = false, min_mapq = 5, min_len = 50000, max_div = 2.0;
234
+ var re = /(\d+)([MID])/g;
235
+ while ((c = getopt(args, "mq:l:d:")) != null) {
236
+ if (c == 'm') to_merge = true;
237
+ else if (c == 'q') min_mapq = parseInt(getopt.arg);
238
+ else if (c == 'l') min_len = parseInt(getopt.arg);
239
+ else if (c == 'd') max_div = parseFloat(getopt.arg);
240
+ }
241
+ if (args.length - getopt.ind < 2) {
242
+ print("Usage: paftools.js liftover [options] <aln.paf> <query.bed>");
243
+ print("Options:");
244
+ print(" -q INT min mapping quality [" + min_mapq + "]");
245
+ print(" -l INT min alignment length [" + min_len + "]");
246
+ print(" -d FLOAT max sequence divergence (>=1 to disable) [1]");
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+ exit(1);
248
+ }
249
+ var bed = read_bed(args[getopt.ind+1], to_merge);
250
+
251
+ var file = args[getopt.ind] == '-'? new File() : new File(args[getopt.ind]);
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+ var buf = new Bytes();
253
+ while (file.readline(buf) >= 0) {
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+ var t = buf.toString().split("\t");
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+
256
+ if (bed[t[0]] == null) continue; // sequence not present in BED; skip
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+
258
+ // parse tp and cg tags
259
+ var m, tp = null, cg = null;
260
+ 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);