minimap2 0.2.30.3 → 1.2.31.0

This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
Files changed (72) hide show
  1. checksums.yaml +4 -4
  2. data/README.md +48 -63
  3. data/ext/minimap2/Makefile +1 -1
  4. data/ext/minimap2/format.c +12 -2
  5. data/ext/minimap2/hit.c +19 -8
  6. data/ext/minimap2/ksw2_ll_sse.c +2 -2
  7. data/ext/minimap2/minimap.h +2 -1
  8. data/ext/minimap2/pe.c +7 -2
  9. data/ext/ruby_minimap2/extconf.rb +47 -0
  10. data/ext/ruby_minimap2/native_main.c +15 -0
  11. data/ext/ruby_minimap2/ruby_minimap2.c +1134 -0
  12. data/lib/minimap2/aligner.rb +66 -374
  13. data/lib/minimap2/alignment.rb +22 -11
  14. data/lib/minimap2/version.rb +2 -1
  15. data/lib/minimap2.rb +39 -110
  16. metadata +8 -89
  17. data/ext/Rakefile +0 -60
  18. data/ext/cmappy/cmappy.c +0 -134
  19. data/ext/cmappy/cmappy.h +0 -46
  20. data/ext/minimap2/FAQ.md +0 -46
  21. data/ext/minimap2/MANIFEST.in +0 -10
  22. data/ext/minimap2/Makefile.simde +0 -97
  23. data/ext/minimap2/NEWS.md +0 -989
  24. data/ext/minimap2/README.md +0 -428
  25. data/ext/minimap2/code_of_conduct.md +0 -30
  26. data/ext/minimap2/cookbook.md +0 -243
  27. data/ext/minimap2/minimap2.1 +0 -844
  28. data/ext/minimap2/misc/README.md +0 -180
  29. data/ext/minimap2/misc/pafcluster.js +0 -241
  30. data/ext/minimap2/misc/paftools.js +0 -3734
  31. data/ext/minimap2/pyproject.toml +0 -2
  32. data/ext/minimap2/python/README.rst +0 -198
  33. data/ext/minimap2/python/cmappy.h +0 -152
  34. data/ext/minimap2/python/cmappy.pxd +0 -156
  35. data/ext/minimap2/python/mappy.pyx +0 -289
  36. data/ext/minimap2/python/minimap2.py +0 -41
  37. data/ext/minimap2/setup.py +0 -55
  38. data/ext/minimap2/test/MT-human.fa +0 -278
  39. data/ext/minimap2/test/MT-orang.fa +0 -276
  40. data/ext/minimap2/test/q-inv.fa +0 -4
  41. data/ext/minimap2/test/q2.fa +0 -2
  42. data/ext/minimap2/test/t-inv.fa +0 -127
  43. data/ext/minimap2/test/t2.fa +0 -2
  44. data/ext/minimap2/test/x3s-aln.txt +0 -5
  45. data/ext/minimap2/test/x3s-qry.fa +0 -5
  46. data/ext/minimap2/test/x3s-ref.fa +0 -10
  47. data/ext/minimap2/tex/Makefile +0 -21
  48. data/ext/minimap2/tex/bioinfo.cls +0 -930
  49. data/ext/minimap2/tex/blasr-mc.eval +0 -17
  50. data/ext/minimap2/tex/bowtie2-s3.sam.eval +0 -28
  51. data/ext/minimap2/tex/bwa-s3.sam.eval +0 -52
  52. data/ext/minimap2/tex/bwa.eval +0 -55
  53. data/ext/minimap2/tex/eval2roc.pl +0 -33
  54. data/ext/minimap2/tex/graphmap.eval +0 -4
  55. data/ext/minimap2/tex/hs38-simu.sh +0 -10
  56. data/ext/minimap2/tex/minialign.eval +0 -49
  57. data/ext/minimap2/tex/minimap2.bib +0 -460
  58. data/ext/minimap2/tex/minimap2.tex +0 -724
  59. data/ext/minimap2/tex/mm2-s3.sam.eval +0 -62
  60. data/ext/minimap2/tex/mm2-update.tex +0 -240
  61. data/ext/minimap2/tex/mm2.approx.eval +0 -12
  62. data/ext/minimap2/tex/mm2.eval +0 -13
  63. data/ext/minimap2/tex/natbib.bst +0 -1288
  64. data/ext/minimap2/tex/natbib.sty +0 -803
  65. data/ext/minimap2/tex/ngmlr.eval +0 -38
  66. data/ext/minimap2/tex/roc.gp +0 -60
  67. data/ext/minimap2/tex/snap-s3.sam.eval +0 -62
  68. data/ext/minimap2.patch +0 -19
  69. data/lib/minimap2/ffi/constants.rb +0 -267
  70. data/lib/minimap2/ffi/functions.rb +0 -239
  71. data/lib/minimap2/ffi/mappy.rb +0 -104
  72. data/lib/minimap2/ffi.rb +0 -27
data/ext/minimap2/NEWS.md DELETED
@@ -1,989 +0,0 @@
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- Release 2.30-r1287 (15 June 2025)
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- ---------------------------------
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-
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- Notable changes:
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-
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- * Improvement: consolidated `--spsc`.
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-
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- * Deprecation: subcommands `splice2bed`, `gff2bed`, `gff2junc`, `junceval` and
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- `exoneval` in `paftools.js` are deprecated by minigff. They will remain
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- indefinitely for backward compatibility.
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-
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- (2.30: 15 June 2025, r1287)
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-
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-
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-
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- Release 2.29-r1283 (18 April 2025)
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- ----------------------------------
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-
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- Notable changes to minimap2:
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-
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- * New feature: added the `splice:sr` preset for short RNA-seq read alignment.
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- Users may use `-j` to specify known gene annotation to improve spliced
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- alignment close to the ends of short reads. Also added `--write-junc` and
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- `--pass1` for 2-pass short-read RNA-seq alignment.
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-
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- * Experimental feature: read splice scores from a file specified by `--spsc`
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- and consider the scores during base alignment. The feature makes it possible
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- to apply advanced splice models and to improve spliced alignment.
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-
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- * Change: adjusted the mapping quality calculation for spliced alignment.
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-
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- * Bugfixes: a) missing overlap alignment when base alignment is requested
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- (#969); b) incorrect summary information for long genomes (#1192); c)
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- missing parameter check for `--score-N` (#1226).
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-
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- * Improvement: a) warn about absent junction files (#1229); b) report an error
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- if a wrong preset prefixed with "splice" is specified (#589).
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-
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- Notable changes to mappy:
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-
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- * Improvement: allow passing read name (#1260)
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-
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- * Improvement: exposed score for ambiguous bases (#1240)
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-
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- Minimap2 now supports short/long genomic/RNA-seq read alignment along with
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- contig alignment and all-vs-all read overlapping. It produces identical genomic
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- long-read or contig alignment to v2.27. Short genomic read alignment and the
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- mapping quality of long RNA-seq read alignment may slightly differ in very rare
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- cases.
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-
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- (2.29: 18 April 2025, r1283)
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-
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-
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-
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- Release 2.28-r1209 (27 March 2024)
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- ----------------------------------
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-
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- Notable changes to minimap2:
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-
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- * Bugfix: `--MD` was not working properly due to the addition of `--ds` in the
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- last release (#1181 and #1182).
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-
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- * New feature: added an experimental preset `lq:hqae` for aligning accurate
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- long reads back to their assembly. It has been observed that `map-hifi` and
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- `lr:hq` may produce many wrong alignments around centromeres when accurate
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- long reads (PacBio HiFi or Nanopore duplex/Q20+) are mapped to a diploid
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- assembly constructed from them. This new preset produces much more accurate
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- alignment. It is still experimental and may be subjective to changes in
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- future.
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-
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- * Change: reduced the default `--cap-kalloc` to 500m to lower the peak
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- memory consumption (#855).
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-
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- Notable changes to mappy:
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-
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- * Bugfix: mappy option struct was out of sync with minimap2 (#1177).
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-
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- Minimap2 should output identical alignments to v2.27.
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-
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- (2.28: 27 March 2024, r1209)
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-
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-
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-
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- Release 2.27-r1193 (12 March 2024)
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- ----------------------------------
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-
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- Notable changes to minimap2:
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-
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- * New feature: added the `lr:hq` preset for accurate long reads at ~1% error
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- rate. This was suggested by Oxford Nanopore developers (#1127). It is not
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- clear if this preset also works well for PacBio HiFi reads.
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-
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- * New feature: added the `map-iclr` preset for Illumina Complete Long Reads
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- (#1069), provided by Illumina developers.
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-
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- * New feature: added option `-b` to specify mismatch penalty for base
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- transitions (i.e. A-to-G or C-to-T changes).
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-
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- * New feature: added option `--ds` to generate a new `ds:Z` tag that
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- indicates uncertainty in INDEL positions. It is an extension to `cs`. The
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- `mgutils-es6.js` script in minigraph parses `ds`.
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-
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- * Bugfix: avoided a NULL pointer dereference (#1154). This would not have an
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- effect on most systems but would still be good to fix.
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-
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- * Bugfix: reverted the value of `ms:i` to pre-2.22 versions (#1146). This was
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- an oversight. See fcd4df2 for details.
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-
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- Notable changes to paftools.js and mappy:
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-
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- * New feature: expose `bw_long` to mappy's Aligner class (#1124).
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-
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- * Bugfix: fixed several compatibility issues with k8 v1.0 (#1161 and #1166).
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- Subcommands "call", "pbsim2fq" and "mason2fq" were not working with v1.0.
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-
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- Minimap2 should output identical alignments to v2.26, except the ms tag.
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-
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- (2.27: 12 March 2024, r1193)
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-
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-
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-
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- Release 2.26-r1175 (29 April 2023)
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- ----------------------------------
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-
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- Fixed the broken Python package. This is the only change.
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-
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- (2.26: 25 April 2023, r1173)
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-
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-
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-
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- Release 2.25-r1173 (25 April 2023)
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- ----------------------------------
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-
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- Notable changes:
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-
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- * Improvement: use the miniprot splice model for RNA-seq alignment by default.
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- This model considers non-GT-AG splice sites and leads to slightly higher
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- (<0.1%) accuracy and sensitivity on real human data.
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-
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- * Change: increased the default `-I` to `8G` such that minimap2 would create a
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- uni-part index for a pair of mammalian genomes. This change may increase the
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- memory for all-vs-all read overlap alignment given large datasets.
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-
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- * New feature: output the sequences in secondary alignments with option
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- `--secondary-seq` (#687).
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-
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- * Bugfix: --rmq was not parsed correctly (#1010)
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-
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- * Bugfix: possibly incorrect coordinate when applying end bonus to the target
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- sequence (#1025). This is a ksw2 bug. It does not affect minimap2 as
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- minimap2 is not using the affected feature.
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-
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- * Improvement: incorporated several changes for better compatibility with
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- Windows (#1051) and for minimap2 integration at Oxford Nanopore Technologies
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- (#1048 and #1033).
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-
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- * Improvement: output the HD-line in SAM output (#1019).
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-
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- * Improvement: check minimap2 index file in mappy to prevent segmentation
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- fault for certain indices (#1008).
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-
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- For genomic sequences, minimap2 should give identical output to v2.24.
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- Long-read RNA-seq alignment may occasionally differ from previous versions.
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-
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- (2.25: 25 April 2023, r1173)
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-
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-
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-
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- Release 2.24-r1122 (26 December 2021)
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- -------------------------------------
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-
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- This release improves alignment around long poorly aligned regions. Older
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- minimap2 may chain through such regions in rare cases which may result in
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- missing alignments later. The issue has become worse since the the change of
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- the chaining algorithm in v2.19. v2.23 implements an incomplete remedy. This
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- release provides a better solution with a X-drop-like heuristic and by enabling
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- two-bandwidth chaining in the assembly mode.
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-
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- (2.24: 26 December 2021, r1122)
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-
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-
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-
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- Release 2.23-r1111 (18 November 2021)
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- -------------------------------------
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-
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- Notable changes:
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-
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- * Bugfix: fixed missing alignments around long inversions (#806 and #816).
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- This bug affected v2.19 through v2.22.
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-
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- * Improvement: avoid extremely long mapping time for pathologic reads with
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- highly repeated k-mers not in the reference (#771). Use --q-occ-frac=0
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- to disable the new heuristic.
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-
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- * Change: use --cap-kalloc=1g by default.
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-
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- (2.23: 18 November 2021, r1111)
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-
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-
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- Release 2.22-r1101 (7 August 2021)
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- ----------------------------------
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-
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- When choosing the best alignment, this release uses logarithm gap penalty and
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- query-specific mismatch penalty. It improves the sensitivity to long INDELs in
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- repetitive regions.
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-
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- Other notable changes:
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-
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- * Bugfix: fixed an indirect memory leak that may waste a large amount of
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- memory given highly repetitive reference such as a 16S RNA database (#749).
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- All versions of minimap2 have this issue.
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-
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- * New feature: added --cap-kalloc to reduce the peak memory. This option is
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- not enabled by default but may become the default in future releases.
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-
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- Known issue:
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-
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- * Minimap2 may take a long time to map a read (#771). So far it is not clear
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- if this happens to v2.18 and earlier versions.
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-
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- (2.22: 7 August 2021, r1101)
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-
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- Release 2.21-r1071 (6 July 2021)
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- --------------------------------
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-
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- This release fixed a regression in short-read mapping introduced in v2.19
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- (#776). It also fixed invalid comparisons of uninitialized variables, though
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- these are harmless (#752). Long-read alignment should be identical to v2.20.
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-
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- (2.21: 6 July 2021, r1071)
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- Release 2.20-r1061 (27 May 2021)
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- --------------------------------
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-
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- This release fixed a bug in the Python module and improves the command-line
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- compatibiliity with v2.18. In v2.19, if `-r` is specified with an `asm*` preset,
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- users would get alignments more fragmented than v2.18. This could be an issue
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- for existing pipelines specifying `-r`. This release resolves this issue.
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-
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- (2.20: 27 May 2021, r1061)
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- Release 2.19-r1057 (26 May 2021)
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- --------------------------------
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-
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- This release includes a few important improvements backported from unimap:
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-
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- * Improvement: more contiguous alignment through long INDELs. This is enabled
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- by the minigraph chaining algorithm. All `asm*` presets now use the new
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- algorithm. They can find INDELs up to 100kb and may be faster for
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- chromosome-long contigs. The default mode and `map*` presets use this
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- algorithm to replace the long-join heuristic.
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-
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- * Improvement: better alignment in highly repetitive regions by rescuing
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- high-occurrence seeds. If the distance between two adjacent seeds is too
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- large, attempt to choose a fraction of high-occurrence seeds in-between.
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- Minimap2 now produces fewer clippings and alignment break points in long
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- satellite regions.
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-
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- * Improvement: allow to specify an interval of k-mer occurrences with `-U`.
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- For repeat-rich genomes, the automatic k-mer occurrence threshold determined
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- by `-f` may be too large and makes alignment impractically slow. The new
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- option protects against such cases. Enabled for `asm*` and `map-hifi`.
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-
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- * New feature: added the `map-hifi` preset for maping PacBio High-Fidelity
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- (HiFi) reads.
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-
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- * Change to the default: apply `--cap-sw-mem=100m` for genomic alignment.
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-
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- * Bugfix: minimap2 could not generate an index file with `-xsr` (#734).
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-
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- This release represents the most signficant algorithmic change since v2.1 in
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- 2017. With features backported from unimap, minimap2 now has similar power to
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- unimap for contig alignment. Unimap will remain an experimental project and is
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- no longer recommended over minimap2. Sorry for reverting the recommendation in
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- short time.
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- (2.19: 26 May 2021, r1057)
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- Release 2.18-r1015 (9 April 2021)
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- ---------------------------------
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-
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- This release fixes multiple rare bugs in minimap2 and adds additional
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- functionality to paftools.js.
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-
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- Changes to minimap2:
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-
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- * Bugfix: a rare segfault caused by an off-by-one error (#489)
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-
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- * Bugfix: minimap2 segfaulted due to an uninitilized variable (#622 and #625).
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-
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- * Bugfix: minimap2 parsed spaces as field separators in BED (#721). This led
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- to issues when the BED name column contains spaces.
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-
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- * Bugfix: minimap2 `--split-prefix` did not work with long reference names
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- (#394).
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-
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- * Bugfix: option `--junc-bonus` didn't work (#513)
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-
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- * Bugfix: minimap2 didn't return 1 on I/O errors (#532)
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- * Bugfix: the `de:f` tag (sequence divergence) could be negative if there were
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- ambiguous bases
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-
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- * Bugfix: fixed two undefined behaviors caused by calling memcpy() on
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- zero-length blocks (#443)
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-
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- * Bugfix: there were duplicated SAM @SQ lines if option `--split-prefix` is in
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- use (#400 and #527)
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-
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- * Bugfix: option -K had to be smaller than 2 billion (#491). This was caused
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- by a 32-bit integer overflow.
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-
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- * Improvement: optionally compile against SIMDe (#597). Minimap2 should work
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- with IBM POWER CPUs, though this has not been tested. To compile with SIMDe,
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- please use `make -f Makefile.simde`.
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-
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- * Improvement: more informative error message for I/O errors (#454) and for
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- FASTQ parsing errors (#510)
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-
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- * Improvement: abort given malformatted RG line (#541)
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-
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- * Improvement: better formula to estimate the `dv:f` tag (approximate sequence
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- divergence). See DOI:10.1101/2021.01.15.426881.
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-
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- * New feature: added the `--mask-len` option to fine control the removal of
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- redundant hits (#659). The default behavior is unchanged.
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-
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- Changes to mappy:
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-
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- * Bugfix: mappy caused segmentation fault if the reference index is not
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- present (#413).
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-
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- * Bugfix: fixed a memory leak via 238b6bb3
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-
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- * Change: always require Cython to compile the mappy module (#723). Older
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- mappy packages at PyPI bundled the C source code generated by Cython such
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- that end users did not need to install Cython to compile mappy. However, as
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- Python 3.9 is breaking backward compatibility, older mappy does not work
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- with Python 3.9 anymore. We have to add this Cython dependency as a
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- workaround.
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-
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- Changes to paftools.js:
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-
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- * Bugfix: the "part10-" line from asmgene was wrong (#581)
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-
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- * Improvement: compatibility with GTF files from GenBank (#422)
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-
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- * New feature: asmgene also checks missing multi-copy genes
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-
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- * New feature: added the misjoin command to evaluate large-scale misjoins and
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- megabase-long inversions.
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- Although given the many bug fixes and minor improvements, the core algorithm
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- stays the same. This version of minimap2 produces nearly identical alignments
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- to v2.17 except very rare corner cases.
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- Now unimap is recommended over minimap2 for aligning long contigs against a
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- reference genome. It often takes less wall-clock time and is much more
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- sensitive to long insertions and deletions.
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- (2.18: 9 April 2021, r1015)
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- Release 2.17-r941 (4 May 2019)
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- ------------------------------
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-
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- Changes since the last release:
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-
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- * Fixed flawed CIGARs like `5I6D7I` (#392).
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-
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- * Bugfix: TLEN should be 0 when either end is unmapped (#373 and #365).
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-
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- * Bugfix: mappy is unable to write index (#372).
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-
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- * Added option `--junc-bed` to load known gene annotations in the BED12
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- format. Minimap2 prefers annotated junctions over novel junctions (#197 and
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- #348). GTF can be converted to BED12 with `paftools.js gff2bed`.
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-
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- * Added option `--sam-hit-only` to suppress unmapped hits in SAM (#377).
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-
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- * Added preset `splice:hq` for high-quality CCS or mRNA sequences. It applies
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- better scoring and improves the sensitivity to small exons. This preset may
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- introduce false small introns, but the overall accuracy should be higher.
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-
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- This version produces nearly identical alignments to v2.16, except for CIGARs
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- affected by the bug mentioned above.
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- (2.17: 5 May 2019, r941)
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- Release 2.16-r922 (28 February 2019)
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- ------------------------------------
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-
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- This release is 50% faster for mapping ultra-long nanopore reads at comparable
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- accuracy. For short-read mapping, long-read overlapping and ordinary long-read
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- mapping, the performance and accuracy remain similar. This speedup is achieved
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- with a new heuristic to limit the number of chaining iterations (#324). Users
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- can disable the heuristic by increasing a new option `--max-chain-iter` to a
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- huge number.
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- Other changes to minimap2:
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-
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- * Implemented option `--paf-no-hit` to output unmapped query sequences in PAF.
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- The strand and reference name columns are both `*` at an unmapped line. The
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- hidden option is available in earlier minimap2 but had a different 2-column
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- output format instead of PAF.
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- * Fixed a bug that leads to wrongly calculated `de` tags when ambiguous bases
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- are involved (#309). This bug only affects v2.15.
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-
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- * Fixed a bug when parsing command-line option `--splice` (#344). This bug was
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- introduced in v2.13.
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-
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- * Fixed two division-by-zero cases (#326). They don't affect final alignments
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- because the results of the divisions are not used in both case.
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-
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- * Added an option `-o` to output alignments to a specified file. It is still
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- recommended to use UNIX pipes for on-the-fly conversion or compression.
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- * Output a new `rl` tag to give the length of query regions harboring
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- repetitive seeds.
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-
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- Changes to paftool.js:
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-
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- * Added a new option to convert the MD tag to the long form of the cs tag.
437
-
438
- Changes to mappy:
439
-
440
- * Added the `mappy.Aligner.seq_names` method to return sequence names (#312).
441
-
442
- For NA12878 ultra-long reads, this release changes the alignments of <0.1% of
443
- reads in comparison to v2.15. All these reads have highly fragmented alignments
444
- and are likely to be problematic anyway. For shorter or well aligned reads,
445
- this release should produce mostly identical alignments to v2.15.
446
-
447
- (2.16: 28 February 2019, r922)
448
-
449
-
450
-
451
- Release 2.15-r905 (10 January 2019)
452
- -----------------------------------
453
-
454
- Changes to minimap2:
455
-
456
- * Fixed a rare segmentation fault when option -H is in use (#307). This may
457
- happen when there are very long homopolymers towards the 5'-end of a read.
458
-
459
- * Fixed wrong CIGARs when option --eqx is used (#266).
460
-
461
- * Fixed a typo in the base encoding table (#264). This should have no
462
- practical effect.
463
-
464
- * Fixed a typo in the example code (#265).
465
-
466
- * Improved the C++ compatibility by removing "register" (#261). However,
467
- minimap2 still can't be compiled in the pedantic C++ mode (#306).
468
-
469
- * Output a new "de" tag for gap-compressed sequence divergence.
470
-
471
- Changes to paftools.js:
472
-
473
- * Added "asmgene" to evaluate the completeness of an assembly by measuring the
474
- uniquely mapped single-copy genes. This command learns the idea of BUSCO.
475
-
476
- * Added "vcfpair" to call a phased VCF from phased whole-genome assemblies. An
477
- earlier version of this script is used to produce the ground truth for the
478
- syndip benchmark [PMID:30013044].
479
-
480
- This release produces identical alignment coordinates and CIGARs in comparison
481
- to v2.14. Users are advised to upgrade due to the several bug fixes.
482
-
483
- (2.15: 10 Janurary 2019, r905)
484
-
485
-
486
-
487
- Release 2.14-r883 (5 November 2018)
488
- -----------------------------------
489
-
490
- Notable changes:
491
-
492
- * Fixed two minor bugs caused by typos (#254 and #266).
493
-
494
- * Fixed a bug that made minimap2 abort when --eqx was used together with --MD
495
- or --cs (#257).
496
-
497
- * Added --cap-sw-mem to cap the size of DP matrices (#259). Base alignment may
498
- take a lot of memory in the splicing mode. This may lead to issues when we
499
- run minimap2 on a cluster with a hard memory limit. The new option avoids
500
- unlimited memory usage at the cost of missing a few long introns.
501
-
502
- * Conforming to C99 and C11 when possible (#261).
503
-
504
- * Warn about malformatted FASTA or FASTQ (#252 and #255).
505
-
506
- This release occasionally produces base alignments different from v2.13. The
507
- overall alignment accuracy remain similar.
508
-
509
- (2.14: 5 November 2018, r883)
510
-
511
-
512
-
513
- Release 2.13-r850 (11 October 2018)
514
- -----------------------------------
515
-
516
- Changes to minimap2:
517
-
518
- * Fixed wrongly formatted SAM when -L is in use (#231 and #233).
519
-
520
- * Fixed an integer overflow in rare cases.
521
-
522
- * Added --hard-mask-level to fine control split alignments (#244).
523
-
524
- * Made --MD work with spliced alignment (#139).
525
-
526
- * Replaced musl's getopt with ketopt for portability.
527
-
528
- * Log peak memory usage on exit.
529
-
530
- This release should produce alignments identical to v2.12 and v2.11.
531
-
532
- (2.13: 11 October 2018, r850)
533
-
534
-
535
-
536
- Release 2.12-r827 (6 August 2018)
537
- ---------------------------------
538
-
539
- Changes to minimap2:
540
-
541
- * Added option --split-prefix to write proper alignments (correct mapping
542
- quality and clustered query sequences) given a multi-part index (#141 and
543
- #189; mostly by @hasindu2008).
544
-
545
- * Fixed a memory leak when option -y is in use.
546
-
547
- Changes to mappy:
548
-
549
- * Support the MD/cs tag (#183 and #203).
550
-
551
- * Allow mappy to index a single sequence, to add extra flags and to change the
552
- scoring system.
553
-
554
- Minimap2 should produce alignments identical to v2.11.
555
-
556
- (2.12: 6 August 2018, r827)
557
-
558
-
559
-
560
- Release 2.11-r797 (20 June 2018)
561
- --------------------------------
562
-
563
- Changes to minimap2:
564
-
565
- * Improved alignment accuracy in low-complexity regions for SV calling. Thank
566
- @armintoepfer for multiple offline examples.
567
-
568
- * Added option --eqx to encode sequence match/mismatch with the =/X CIGAR
569
- operators (#156, #157 and #175).
570
-
571
- * When compiled with VC++, minimap2 generated wrong alignments due to a
572
- comparison between a signed integer and an unsigned integer (#184). Also
573
- fixed warnings reported by "clang -Wextra".
574
-
575
- * Fixed incorrect anchor filtering due to a missing 64- to 32-bit cast.
576
-
577
- * Fixed incorrect mapping quality for inversions (#148).
578
-
579
- * Fixed incorrect alignment involving ambiguous bases (#155).
580
-
581
- * Fixed incorrect presets: option `-r 2000` is intended to be used with
582
- ava-ont, not ava-pb. The bug was introduced in 2.10.
583
-
584
- * Fixed a bug when --for-only/--rev-only is used together with --sr or
585
- --heap-sort=yes (#166).
586
-
587
- * Fixed option -Y that was not working in the previous releases.
588
-
589
- * Added option --lj-min-ratio to fine control the alignment of long gaps
590
- found by the "long-join" heuristic (#128).
591
-
592
- * Exposed `mm_idx_is_idx`, `mm_idx_load` and `mm_idx_dump` C APIs (#177).
593
- Also fixed a bug when indexing without reference names (this feature is not
594
- exposed to the command line).
595
-
596
- Changes to mappy:
597
-
598
- * Added `__version__` (#165).
599
-
600
- * Exposed the maximum fragment length parameter to mappy (#174).
601
-
602
- Changes to paftools:
603
-
604
- * Don't crash when there is no "cg" tag (#153).
605
-
606
- * Fixed wrong coverage report by "paftools.js call" (#145).
607
-
608
- This version may produce slightly different base-level alignment. The overall
609
- alignment statistics should remain similar.
610
-
611
- (2.11: 20 June 2018, r797)
612
-
613
-
614
-
615
- Release 2.10-r761 (27 March 2018)
616
- ---------------------------------
617
-
618
- Changes to minimap2:
619
-
620
- * Optionally output the MD tag for compatibility with existing tools (#63,
621
- #118 and #137).
622
-
623
- * Use SSE compiler flags more precisely to prevent compiling errors on certain
624
- machines (#127).
625
-
626
- * Added option --min-occ-floor to set a minimum occurrence threshold. Presets
627
- intended for assembly-to-reference alignment set this option to 100. This
628
- option alleviates issues with regions having high copy numbers (#107).
629
-
630
- * Exit with non-zero code on file writing errors (e.g. disk full; #103 and
631
- #132).
632
-
633
- * Added option -y to copy FASTA/FASTQ comments in query sequences to the
634
- output (#136).
635
-
636
- * Added the asm20 preset for alignments between genomes at 5-10% sequence
637
- divergence.
638
-
639
- * Changed the band-width in the ava-ont preset from 500 to 2000. Oxford
640
- Nanopore reads may contain long deletion sequencing errors that break
641
- chaining.
642
-
643
- Changes to mappy, the Python binding:
644
-
645
- * Fixed a typo in Align.seq() (#126).
646
-
647
- Changes to paftools.js, the companion script:
648
-
649
- * Command sam2paf now converts the MD tag to cs.
650
-
651
- * Support VCF output for assembly-to-reference variant calling (#109).
652
-
653
- This version should produce identical alignment for read overlapping, RNA-seq
654
- read mapping, and genomic read mapping. We have also added a cook book to show
655
- the variety uses of minimap2 on real datasets. Please see cookbook.md in the
656
- minimap2 source code directory.
657
-
658
- (2.10: 27 March 2017, r761)
659
-
660
-
661
-
662
- Release 2.9-r720 (23 February 2018)
663
- -----------------------------------
664
-
665
- This release fixed multiple minor bugs.
666
-
667
- * Fixed two bugs that lead to incorrect inversion alignment. Also improved the
668
- sensitivity to small inversions by using double Z-drop cutoff (#112).
669
-
670
- * Fixed an issue that may cause the end of a query sequence unmapped (#104).
671
-
672
- * Added a mappy API to retrieve sequences from the index (#126) and to reverse
673
- complement DNA sequences. Fixed a bug where the `best_n` parameter did not
674
- work (#117).
675
-
676
- * Avoided segmentation fault given incorrect FASTQ input (#111).
677
-
678
- * Combined all auxiliary javascripts to paftools.js. Fixed several bugs in
679
- these scripts at the same time.
680
-
681
- (2.9: 24 February 2018, r720)
682
-
683
-
684
-
685
- Release 2.8-r672 (1 February 2018)
686
- ----------------------------------
687
-
688
- Notable changes in this release include:
689
-
690
- * Speed up short-read alignment by ~10%. The overall mapping accuracy stays
691
- the same, but the output alignments are not always identical to v2.7 due to
692
- unstable sorting employed during chaining. Long-read alignment is not
693
- affected by this change as the speedup is short-read specific.
694
-
695
- * Mappy now supports paired-end short-read alignment (#87). Please see
696
- python/README.rst for details.
697
-
698
- * Added option --for-only and --rev-only to perform alignment against the
699
- forward or the reverse strand of the reference genome only (#91).
700
-
701
- * Alleviated the issue with undesired diagonal alignment in the self mapping
702
- mode (#10). Even if the output is not ideal, it should not interfere with
703
- other alignments. Fully resolving the issue is intricate and may require
704
- additional heuristic thresholds.
705
-
706
- * Enhanced error checking against incorrect input (#92 and #96).
707
-
708
- For long query sequences, minimap2 should output identical alignments to v2.7.
709
-
710
- (2.8: 1 February 2018, r672)
711
-
712
-
713
-
714
- Release 2.7-r654 (9 January 2018)
715
- ---------------------------------
716
-
717
- This release fixed a bug in the splice mode and added a few minor features:
718
-
719
- * Fixed a bug that occasionally takes an intron as a long deletion in the
720
- splice mode. This was caused by wrong backtracking at the last CIGAR
721
- operator. The current fix eliminates the error, but it is not optimal in
722
- that it often produces a wrong junction when the last operator is an intron.
723
- A future version of minimap2 may improve upon this.
724
-
725
- * Support high-end ARM CPUs that implement the NEON instruction set (#81).
726
- This enables minimap2 to work on Raspberry Pi 3 and Odroid XU4.
727
-
728
- * Added a C API to construct a minimizer index from a set of C strings (#80).
729
-
730
- * Check scoring specified on the command line (#79). Due to the 8-bit limit,
731
- excessively large score penalties fail minimap2.
732
-
733
- For genomic sequences, minimap2 should give identical alignments to v2.6.
734
-
735
- (2.7: 9 January 2018, r654)
736
-
737
-
738
-
739
- Release 2.6-r623 (12 December 2017)
740
- -----------------------------------
741
-
742
- This release adds several features and fixes two minor bugs:
743
-
744
- * Optionally build an index without sequences. This helps to reduce the
745
- peak memory for read overlapping and is automatically applied when
746
- base-level alignment is not requested.
747
-
748
- * Approximately estimate per-base sequence divergence (i.e. 1-identity)
749
- without performing base-level alignment, using a MashMap-like method. The
750
- estimate is written to a new dv:f tag.
751
-
752
- * Reduced the number of tiny terminal exons in RNA-seq alignment. The current
753
- setting is conservative. Increase --end-seed-pen to drop more such exons.
754
-
755
- * Reduced the peak memory when aligning long query sequences.
756
-
757
- * Fixed a bug that is caused by HPC minimizers longer than 256bp. This should
758
- have no effect in practice, but it is recommended to rebuild HPC indices if
759
- possible.
760
-
761
- * Fixed a bug when identifying identical hits (#71). This should only affect
762
- artifactual reference consisting of near identical sequences.
763
-
764
- For genomic sequences, minimap2 should give nearly identical alignments to
765
- v2.5, except the new dv:f tag.
766
-
767
- (2.6: 12 December 2017, r623)
768
-
769
-
770
-
771
- Release 2.5-r572 (11 November 2017)
772
- -----------------------------------
773
-
774
- This release fixes several bugs and brings a couple of minor improvements:
775
-
776
- * Fixed a severe bug that leads to incorrect mapping coordinates in rare
777
- corner cases.
778
-
779
- * Fixed underestimated mapping quality for chimeric alignments when the whole
780
- query sequence contain many repetitive minimizers, and for chimeric
781
- alignments caused by Z-drop.
782
-
783
- * Fixed two bugs in Python binding: incorrect strand field (#57) and incorrect
784
- sequence names for Python3 (#55).
785
-
786
- * Improved mapping accuracy for highly overlapping paired ends.
787
-
788
- * Added option -Y to use soft clipping for supplementary alignments (#56).
789
-
790
- (2.5: 11 November 2017, r572)
791
-
792
-
793
-
794
- Release 2.4-r555 (6 November 2017)
795
- ----------------------------------
796
-
797
- As is planned, this release focuses on fine tuning the base algorithm. Notable
798
- changes include
799
-
800
- * Changed the mapping quality scale to match the scale of BWA-MEM. This makes
801
- minimap2 and BWA-MEM achieve similar sensitivity-specificity balance on real
802
- short-read data.
803
-
804
- * Improved the accuracy of splice alignment by modeling one additional base
805
- close to the GT-AG signal. This model is used by default with `-x splice`.
806
- For SIRV control data, however, it is recommended to add `--splice-flank=no`
807
- to disable this feature as the SIRV splice signals are slightly different.
808
-
809
- * Tuned the parameters for Nanopore Direct RNA reads. The recommended command
810
- line is `-axsplice -k14 -uf` (#46).
811
-
812
- * Fixed a segmentation fault when aligning PacBio reads (#47 and #48). This
813
- bug is very rare but it affects all versions of minimap2. It is also
814
- recommended to re-index reference genomes created with `map-pb`. For human,
815
- two minimizers in an old index are wrong.
816
-
817
- * Changed option `-L` in sync with the final decision of hts-specs: a fake
818
- CIGAR takes the form of `<readLen>S<refLen>N`. Note that `-L` only enables
819
- future tools to recognize long CIGARs. It is not possible for older tools to
820
- work with such alignments in BAM (#43 and #51).
821
-
822
- * Fixed a tiny issue whereby minimap2 may waste 8 bytes per candidate
823
- alignment.
824
-
825
- The minimap2 technical note hosted at arXiv has also been updated to reflect
826
- recent changes.
827
-
828
- (2.4: 6 November 2017, r555)
829
-
830
-
831
-
832
- Release 2.3-r531 (22 October 2017)
833
- ----------------------------------
834
-
835
- This release come with many improvements and bug fixes:
836
-
837
- * The **sr** preset now supports paired-end short-read alignment. Minimap2 is
838
- 3-4 times as fast as BWA-MEM, but is slightly less accurate on simulated
839
- reads.
840
-
841
- * Meticulous improvements to assembly-to-assembly alignment (special thanks to
842
- Alexey Gurevich from the QUAST team): a) apply a small penalty to matches
843
- between ambiguous bases; b) reduce missing alignments due to spurious
844
- overlaps; c) introduce the short form of the `cs` tag, an improvement to the
845
- SAM MD tag.
846
-
847
- * Make sure gaps are always left-aligned.
848
-
849
- * Recognize `U` bases from Oxford Nanopore Direct RNA-seq (#33).
850
-
851
- * Fixed slightly wrong chaining score. Fixed slightly inaccurate coordinates
852
- for split alignment.
853
-
854
- * Fixed multiple reported bugs: 1) wrong reference name for inversion
855
- alignment (#30); 2) redundant SQ lines when multiple query files are
856
- specified (#39); 3) non-functioning option `-K` (#36).
857
-
858
- This release has implemented all the major features I planned five months ago,
859
- with the addition of spliced long-read alignment. The next couple of releases
860
- will focus on fine tuning of the base algorithms.
861
-
862
- (2.3: 22 October 2017, r531)
863
-
864
-
865
-
866
- Release 2.2-r409 (17 September 2017)
867
- ------------------------------------
868
-
869
- This is a feature release. It improves single-end short-read alignment and
870
- comes with Python bindings. Detailed changes include:
871
-
872
- * Added the **sr** preset for single-end short-read alignment. In this mode,
873
- minimap2 runs faster than BWA-MEM, but is slightly less accurate on
874
- simulated data sets. Paired-end alignment is not supported as of now.
875
-
876
- * Improved mapping quality estimate with more accurate identification of
877
- repetitive hits. This mainly helps short-read alignment.
878
-
879
- * Implemented **mappy**, a Python binding for minimap2, which is available
880
- from PyPI and can be installed with `pip install --user mappy`. Python users
881
- can perform read alignment without the minimap2 executable.
882
-
883
- * Restructured the indexing APIs and documented key minimap2 APIs in the
884
- header file minimap.h. Updated example.c with the new APIs. Old APIs still
885
- work but may become deprecated in future.
886
-
887
- This release may output alignments different from the previous version, though
888
- the overall alignment statistics, such as the number of aligned bases and long
889
- gaps, remain close.
890
-
891
- (2.2: 17 September 2017, r409)
892
-
893
-
894
-
895
- Release 2.1.1-r341 (6 September 2017)
896
- -------------------------------------
897
-
898
- This is a maintenance release that is expected to output identical alignment to
899
- v2.1. Detailed changes include:
900
-
901
- * Support CPU dispatch. By default, minimap2 is compiled with both SSE2 and
902
- SSE4 based implementation of alignment and automatically chooses the right
903
- one at runtime. This avoids unexpected errors on older CPUs (#21).
904
-
905
- * Improved Windows support as is requested by Oxford Nanopore (#19). Minimap2
906
- now avoids variable-length stacked arrays, eliminates alloca(), ships with
907
- getopt_long() and provides timing functions implemented with Windows APIs.
908
-
909
- * Fixed a potential segmentation fault when specifying -k/-w/-H with
910
- multi-part index (#23).
911
-
912
- * Fixed two memory leaks in example.c
913
-
914
- (2.1.1: 6 September 2017, r341)
915
-
916
-
917
-
918
- Release 2.1-r311 (25 August 2017)
919
- ---------------------------------
920
-
921
- This release adds spliced alignment for long noisy RNA-seq reads. On a SMRT
922
- Iso-Seq and a Oxford Nanopore data sets, minimap2 appears to outperform
923
- traditional mRNA aligners. For DNA alignment, this release gives almost
924
- identical output to v2.0. Other changes include:
925
-
926
- * Added option `-R` to set the read group header line in SAM.
927
-
928
- * Optionally output the `cs:Z` tag in PAF to encode both the query and the
929
- reference sequences in the alignment.
930
-
931
- * Fixed an issue where DP alignment uses excessive memory.
932
-
933
- The minimap2 technical report has been updated with more details and the
934
- evaluation of spliced alignment:
935
-
936
- * Li, H. (2017). Minimap2: fast pairwise alignment for long nucleotide
937
- sequences. [arXiv:1708.01492v2](https://arxiv.org/abs/1708.01492v2).
938
-
939
- (2.1: 25 August 2017, r311)
940
-
941
-
942
-
943
- Release 2.0-r275 (8 August 2017)
944
- --------------------------------
945
-
946
- This release is identical to version 2.0rc1, except the version number. It is
947
- described and evaluated in the following technical report:
948
-
949
- * Li, H. (2017). Minimap2: fast pairwise alignment for long DNA sequences.
950
- [arXiv:1708.01492v1](https://arxiv.org/abs/1708.01492v1).
951
-
952
- (2.0: 8 August 2017, r275)
953
-
954
-
955
-
956
- Release 2.0rc1-r232 (30 July 2017)
957
- ----------------------------------
958
-
959
- This release improves the accuracy of long-read alignment and added several
960
- minor features.
961
-
962
- * Improved mapping quality estimate for short alignments containing few seed
963
- hits.
964
-
965
- * Fixed a minor bug that affects the chaining accuracy towards the ends of a
966
- chain. Changed the gap cost for chaining to reduce false seeding.
967
-
968
- * Skip potentially wrong seeding and apply dynamic programming more frequently.
969
- This slightly increases run time, but greatly reduces false long gaps.
970
-
971
- * Perform local alignment at Z-drop break point to recover potential inversion
972
- alignment. Output the SA tag in the SAM format. Added scripts to evaluate
973
- mapping accuracy for reads simulated with pbsim.
974
-
975
- This release completes features intended for v2.0. No major features will be
976
- added to the master branch before the final v2.0.
977
-
978
- (2.0rc1: 30 July 2017, r232)
979
-
980
-
981
-
982
- Release r191 (19 July 2017)
983
- ---------------------------
984
-
985
- This is the first public release of minimap2, an aligner for long reads and
986
- assemblies. This release has a few issues and is generally not recommended for
987
- production uses.
988
-
989
- (19 July 2017, r191)