bio-bwa 0.2.0

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  1. data/.document +5 -0
  2. data/Gemfile +15 -0
  3. data/Gemfile.lock +28 -0
  4. data/LICENSE.txt +35 -0
  5. data/README.rdoc +33 -0
  6. data/Rakefile +56 -0
  7. data/VERSION +1 -0
  8. data/bio-bwa.gemspec +152 -0
  9. data/doc/Bio.html +93 -0
  10. data/doc/Bio/BWA.html +2884 -0
  11. data/doc/Bio/BWA/Library.html +229 -0
  12. data/doc/_index.html +119 -0
  13. data/doc/class_list.html +36 -0
  14. data/doc/css/common.css +1 -0
  15. data/doc/css/full_list.css +53 -0
  16. data/doc/css/style.css +310 -0
  17. data/doc/file.LICENSE.html +88 -0
  18. data/doc/file.README.html +119 -0
  19. data/doc/file_list.html +41 -0
  20. data/doc/frames.html +13 -0
  21. data/doc/index.html +119 -0
  22. data/doc/js/app.js +203 -0
  23. data/doc/js/full_list.js +149 -0
  24. data/doc/js/jquery.js +154 -0
  25. data/doc/method_list.html +171 -0
  26. data/doc/top-level-namespace.html +88 -0
  27. data/ext/COPYING +674 -0
  28. data/ext/ChangeLog +3864 -0
  29. data/ext/NEWS +555 -0
  30. data/ext/README +29 -0
  31. data/ext/bamlite.c +155 -0
  32. data/ext/bamlite.h +94 -0
  33. data/ext/bntseq.c +303 -0
  34. data/ext/bntseq.h +80 -0
  35. data/ext/bwa.1 +562 -0
  36. data/ext/bwape.c +807 -0
  37. data/ext/bwase.c +686 -0
  38. data/ext/bwase.h +27 -0
  39. data/ext/bwaseqio.c +222 -0
  40. data/ext/bwt.c +250 -0
  41. data/ext/bwt.h +105 -0
  42. data/ext/bwt_gen/Makefile +23 -0
  43. data/ext/bwt_gen/QSufSort.c +496 -0
  44. data/ext/bwt_gen/QSufSort.h +40 -0
  45. data/ext/bwt_gen/bwt_gen.c +1547 -0
  46. data/ext/bwt_gen/bwt_gen.h +105 -0
  47. data/ext/bwt_lite.c +94 -0
  48. data/ext/bwt_lite.h +29 -0
  49. data/ext/bwtaln.c +345 -0
  50. data/ext/bwtaln.h +150 -0
  51. data/ext/bwtgap.c +264 -0
  52. data/ext/bwtgap.h +38 -0
  53. data/ext/bwtindex.c +186 -0
  54. data/ext/bwtio.c +77 -0
  55. data/ext/bwtmisc.c +269 -0
  56. data/ext/bwtsw2.h +51 -0
  57. data/ext/bwtsw2_aux.c +650 -0
  58. data/ext/bwtsw2_chain.c +107 -0
  59. data/ext/bwtsw2_core.c +594 -0
  60. data/ext/bwtsw2_main.c +100 -0
  61. data/ext/cs2nt.c +191 -0
  62. data/ext/is.c +218 -0
  63. data/ext/khash.h +506 -0
  64. data/ext/kseq.h +208 -0
  65. data/ext/ksort.h +269 -0
  66. data/ext/kstring.c +35 -0
  67. data/ext/kstring.h +46 -0
  68. data/ext/kvec.h +90 -0
  69. data/ext/main.c +63 -0
  70. data/ext/main.h +29 -0
  71. data/ext/mkrf_conf.rb +49 -0
  72. data/ext/qualfa2fq.pl +27 -0
  73. data/ext/simple_dp.c +162 -0
  74. data/ext/simpletest.c +23 -0
  75. data/ext/solid2fastq.pl +111 -0
  76. data/ext/stdaln.c +1072 -0
  77. data/ext/stdaln.h +162 -0
  78. data/ext/utils.c +82 -0
  79. data/ext/utils.h +54 -0
  80. data/lib/bio-bwa.rb +7 -0
  81. data/lib/bio/bwa.rb +312 -0
  82. data/lib/bio/bwa/library.rb +42 -0
  83. data/test/data/testdata.fa +602 -0
  84. data/test/data/testdata.long.fa +175 -0
  85. data/test/data/testdata.short.fa +2 -0
  86. data/test/helper.rb +18 -0
  87. data/test/test_bio-bwa_basic.rb +62 -0
  88. data/test/test_bio-bwa_make_index.rb +42 -0
  89. data/test/test_bio-bwa_run_aln.rb +49 -0
  90. data/test/test_bio-bwa_sam_conversion.rb +49 -0
  91. metadata +218 -0
data/ext/NEWS ADDED
@@ -0,0 +1,555 @@
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+ Beta Release 0.5.9 (24 January, 2011)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes:
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+
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+ * Feature: barcode support via the `-B' option.
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+
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+ * Feature: Illumina 1.3+ read format support via the `-I' option.
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+
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+ * Bugfix: RG tags are not attached to unmapped reads.
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+
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+ * Bugfix: very rare bwasw mismappings
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+
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+ * Recommend options for PacBio reads in bwasw help message.
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+
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+
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+ Also, since January 13, the BWA master repository has been moved to github:
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+
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+ https://github.com/lh3/bwa
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+
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+ The revision number has been reset. All recent changes will be first
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+ committed to this repository.
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+
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+ (0.5.9: 24 January 2011, r16)
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+
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+
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+
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+ Beta Release Candidate 0.5.9rc1 (10 December, 2010)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes in bwasw:
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+
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+ * Output unmapped reads.
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+
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+ * For a repetitive read, choose a random hit instead of a fixed
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+ one. This is not well tested.
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+
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+ Notable changes in bwa-short:
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+
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+ * Fixed a bug in the SW scoring system, which may lead to unexpected
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+ gaps towards the end of a read.
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+
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+ * Fixed a bug which invalidates the randomness of repetitive reads.
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+
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+ * Fixed a rare memory leak.
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+
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+ * Allowed to specify the read group at the command line.
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+
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+ * Take name-grouped BAM files as input.
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+
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+ Changes to this release are usually safe in that they do not interfere
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+ with the key functionality. However, the release has only been tested on
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+ small samples instead of on large-scale real data. If anything weird
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+ happens, please report the bugs to the bio-bwa-help mailing list.
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+
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+ (0.5.9rc1: 10 December 2010, r1561)
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+
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+
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+
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+ Beta Release 0.5.8 (8 June, 2010)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes in bwasw:
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+
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+ * Fixed an issue of missing alignments. This should happen rarely and
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+ only when the contig/read alignment is multi-part. Very rarely, bwasw
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+ may still miss a segment in a multi-part alignment. This is difficult
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+ to fix, although possible.
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+
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+ Notable changes in bwa-short:
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+
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+ * Discard the SW alignment when the best single-end alignment is much
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+ better. Such a SW alignment may caused by structural variations and
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+ forcing it to be aligned leads to false alignment. This fix has not
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+ been tested thoroughly. It would be great to receive more users
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+ feedbacks on this issue.
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+
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+ * Fixed a typo/bug in sampe which leads to unnecessarily large memory
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+ usage in some cases.
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+
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+ * Further reduced the chance of reporting `weird pairing'.
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+
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+ (0.5.8: 8 June 2010, r1442)
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+
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+
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+
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+ Beta Release 0.5.7 (1 March, 2010)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This release only has an effect on paired-end data with fat insert-size
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+ distribution. Users are still recommended to update as the new release
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+ improves the robustness to poor data.
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+
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+ * The fix for `weird pairing' was not working in version 0.5.6, pointed
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+ out by Carol Scott. It should work now.
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+
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+ * Optionally output to a normal file rather than to stdout (by Tim
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+ Fennel).
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+
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+ (0.5.7: 1 March 2010, r1310)
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+
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+
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+
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+ Beta Release 0.5.6 (10 Feburary, 2010)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes in bwa-short:
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+
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+ * Report multiple hits in the SAM format at a new tag XA encoded as:
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+ (chr,pos,CIGAR,NM;)*. By default, if a paired or single-end read has
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+ 4 or fewer hits, they will all be reported; if a read in a anomalous
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+ pair has 11 or fewer hits, all of them will be reported.
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+
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+ * Perform Smith-Waterman alignment also for anomalous read pairs when
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+ both ends have quality higher than 17. This reduces false positives
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+ for some SV discovery algorithms.
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+
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+ * Do not report "weird pairing" when the insert size distribution is
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+ too fat or has a mean close to zero.
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+
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+ * If a read is bridging two adjacent chromsomes, flag it as unmapped.
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+
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+ * Fixed a small but long existing memory leak in paired-end mapping.
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+
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+ * Multiple bug fixes in SOLiD mapping: a) quality "-1" can be correctly
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+ parsed by solid2fastq.pl; b) truncated quality string is resolved; c)
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+ SOLiD read mapped to the reverse strand is complemented.
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+
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+ * Bwa now calculates skewness and kurtosis of the insert size
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+ distribution.
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+
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+ * Deploy a Bayesian method to estimate the maximum distance for a read
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+ pair considered to be paired properly. The method is proposed by
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+ Gerton Lunter, but bwa only implements a simplified version.
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+
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+ * Export more functions for Java bindings, by Matt Hanna (See:
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+ http://www.broadinstitute.org/gsa/wiki/index.php/Sting_BWA/C_bindings)
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+
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+ * Abstract bwa CIGAR for further extension, by Rodrigo Goya.
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+
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+ (0.5.6: 10 Feburary 2010, r1303)
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+
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+
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+
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+ Beta Release 0.5.5 (10 November, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This is a bug fix release:
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+
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+ * Fixed a serious bug/typo in aln which does not occur given short
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+ reads, but will lead to segfault for >500bp reads. Of course, the aln
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+ command is not recommended for reads longer than 200bp, but this is a
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+ bug anyway.
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+
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+ * Fixed a minor bug/typo which leads to incorrect single-end mapping
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+ quality when one end is moved to meet the mate-pair requirement.
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+
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+ * Fixed a bug in samse for mapping in the color space. This bug is
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+ caused by quality filtration added since 0.5.1.
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+
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+ (0.5.5: 10 November 2009, r1273)
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+
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+
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+
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+ Beta Release 0.5.4 (9 October, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Since this version, the default seed length used in the "aln" command is
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+ changed to 32.
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+
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+ Notable changes in bwa-short:
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+
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+ * Added a new tag "XC:i" which gives the length of clipped reads.
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+
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+ * In sampe, skip alignments in case of a bug in the Smith-Waterman
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+ alignment module.
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+
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+ * In sampe, fixed a bug in pairing when the read sequence is identical
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+ to its reverse complement.
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+
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+ * In sampe, optionally preload the entire FM-index into memory to
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+ reduce disk operations.
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+
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+ Notable changes in dBWT-SW/BWA-SW:
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+
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+ * Changed name dBWT-SW to BWA-SW.
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+
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+ * Optionally use "hard clipping" in the SAM output.
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+
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+ (0.5.4: 9 October 2009, r1245)
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+
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+
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+
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+ Beta Release 0.5.3 (15 September, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Fixed a critical bug in bwa-short: reads mapped to the reverse strand
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+ are not complemented.
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+
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+ (0.5.3: 15 September 2009, r1225)
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+
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+
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+
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+ Beta Release 0.5.2 (13 September, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes in bwa-short:
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+
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+ * Optionally trim reads before alignment. See the manual page on `aln
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+ -q' for detailed description.
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+
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+ * Fixed a bug in calculating the NM tag for a gapped alignment.
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+
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+ * Fixed a bug given a mixture of reads with some longer than the seed
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+ length and some shorter.
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+
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+ * Print SAM header.
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+
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+ Notable changes in dBWT-SW:
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+
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+ * Changed the default value of -T to 30. As a result, the accuracy is a
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+ little higher for short reads at the cost of speed.
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+
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+ (0.5.2: 13 September 2009, r1223)
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+
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+
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+
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+ Beta Release 0.5.1 (2 September, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes in the short read alignment component:
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+
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+ * Fixed a bug in samse: do not write mate coordinates.
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+
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+ Notable changes in dBWT-SW:
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+
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+ * Randomly choose one alignment if the read is a repetitive.
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+
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+ * Fixed a flaw when a read is mapped across two adjacent reference
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+ sequences. However, wrong alignment reports may still occur rarely in
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+ this case.
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+
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+ * Changed the default band width to 50. The speed is slower due to this
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+ change.
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+
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+ * Improved the mapping quality a little given long query sequences.
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+
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+ (0.5.1: 2 September 2009, r1209)
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+
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+
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+
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+ Beta Release 0.5.0 (20 August, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This release implements a novel algorithm, dBWT-SW, specifically
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+ designed for long reads. It is 10-50 times faster than SSAHA2, depending
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+ on the characteristics of the input data, and achieves comparable
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+ alignment accuracy while allowing chimera detection. In comparison to
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+ BLAT, dBWT-SW is several times faster and much more accurate especially
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+ when the error rate is high. Please read the manual page for more
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+ information.
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+
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+ The dBWT-SW algorithm is kind of developed for future sequencing
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+ technologies which produce much longer reads with a little higher error
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+ rate. It is still at its early development stage. Some features are
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+ missing and it may be buggy although I have evaluated on several
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+ simulated and real data sets. But following the "release early"
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+ paradigm, I would like the users to try it first.
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+
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+ Other notable changes in BWA are:
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+
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+ * Fixed a rare bug in the Smith-Waterman alignment module.
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+
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+ * Fixed a rare bug about the wrong alignment coordinate when a read is
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+ poorly aligned.
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+
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+ * Fixed a bug in generating the "mate-unmap" SAM tag when both ends in
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+ a pair are unmapped.
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+
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+ (0.5.0: 20 August 2009, r1200)
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+
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+
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+
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+ Beta Release 0.4.9 (19 May, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Interestingly, the integer overflow bug claimed to be fixed in 0.4.7 has
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+ not in fact. Now I have fixed the bug. Sorry for this and thank Quan
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+ Long for pointing out the bug (again).
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+
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+ (0.4.9: 19 May 2009, r1075)
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+
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+
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+
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+ Beta Release 0.4.8 (18 May, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ One change to "aln -R". Now by default, if there are no more than `-R'
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+ equally best hits, bwa will search for suboptimal hits. This change
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+ affects the ability in finding SNPs in segmental duplications.
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+
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+ I have not tested this option thoroughly, but this simple change is less
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+ likely to cause new bugs. Hope I am right.
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+
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+ (0.4.8: 18 May 2009, r1073)
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+
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+
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+
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+ Beta Release 0.4.7 (12 May, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes:
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+
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+ * Output SM (single-end mapping quality) and AM (smaller mapping
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+ quality among the two ends) tag from sam output.
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+
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+ * Improved the functionality of stdsw.
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+
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+ * Made the XN tag more accurate.
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+
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+ * Fixed a very rare segfault caused by integer overflow.
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+
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+ * Improve the insert size estimation.
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+
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+ * Fixed compiling errors for some Linux systems.
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+
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+ (0.4.7: 12 May 2009, r1066)
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+
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+
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+
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+ Beta Release 0.4.6 (9 March, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This release improves the SOLiD support. First, a script for converting
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+ SOLiD raw data is provided. This script is adapted from solid2fastq.pl
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+ in the MAQ package. Second, a nucleotide reference file can be directly
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+ used with `bwa index'. Third, SOLiD paired-end support is
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+ completed. Fourth, color-space reads will be converted to nucleotides
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+ when SAM output is generated. Color errors are corrected in this
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+ process. Please note that like MAQ, BWA cannot make use of the primer
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+ base and the first color.
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+
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+ In addition, the calculation of mapping quality is also improved a
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+ little bit, although end-users may barely observe the difference.
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+
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+ (0.4.6: 9 March 2009, r915)
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+
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+
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+
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+ Beta Release 0.4.5 (18 Feburary, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Not much happened, but I think it would be good to let the users use the
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+ latest version.
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+
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+ Notable changes (Thank Bob Handsaker for catching the two bugs):
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+
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+ * Improved bounary check. Previous version may still give incorrect
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+ alignment coordinates in rare cases.
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+
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+ * Fixed a bug in SW alignment when no residue matches. This only
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+ affects the `sampe' command.
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+
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+ * Robustly estimate insert size without setting the maximum on the
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+ command line. Since this release `sampe -a' only has an effect if
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+ there are not enough good pairs to infer the insert size
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+ distribution.
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+
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+ * Reduced false PE alignments a little bit by using the inferred insert
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+ size distribution. This fix may be more important for long insert
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+ size libraries.
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+
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+ (0.4.5: 18 Feburary 2009, r829)
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+
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+
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+
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+ Beta Release 0.4.4 (15 Feburary, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This is mainly a bug fix release. Notable changes are:
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+
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+ * Imposed boundary check for extracting subsequence from the
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+ genome. Previously this causes memory problem in rare cases.
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+
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+ * Fixed a bug in failing to find whether an alignment overlapping with
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+ N on the genome.
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+
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+ * Changed MD tag to meet the latest SAM specification.
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+
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+ (0.4.4: 15 Feburary 2009, r815)
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+
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+
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+
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+ Beta Release 0.4.3 (22 January, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Notable changes:
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+
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+ * Treat an ambiguous base N as a mismatch. Previous versions will not
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+ map reads containing any N.
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+
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+ * Automatically choose the maximum allowed number of differences. This
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+ is important when reads of different lengths are mixed together.
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+
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+ * Print mate coordinate if only one end is unmapped.
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+
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+ * Generate MD tag. This tag encodes the mismatching positions and the
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+ reference bases at these positions. Deletions from the reference will
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+ also be printed.
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+
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+ * Optionally dump multiple hits from samse, in another concise format
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+ rather than SAM.
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+
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+ * Optionally disable iterative search. This is VERY SLOOOOW, though.
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+
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+ * Fixed a bug in generate SAM.
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+
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+ (0.4.3: 22 January 2009, r787)
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+
420
+
421
+
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+ Beta Release 0.4.2 (9 January, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Aaron Quinlan found a bug in the indexer: the bwa indexer segfaults if
426
+ there are no comment texts in the FASTA header. This is a critical
427
+ bug. Nothing else was changed.
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+
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+ (0.4.2: 9 January 2009, r769)
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+
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+
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+
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+ Beta Release 0.4.1 (7 January, 2009)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
436
+ I am sorry for the quick updates these days. I like to set a milestone
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+ for BWA and this release seems to be. For paired end reads, BWA also
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+ does Smith-Waterman alignment for an unmapped read whose mate can be
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+ mapped confidently. With this strategy BWA achieves similar accuracy to
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+ maq. Benchmark is also updated accordingly.
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+
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+ (0.4.1: 7 January 2009, r760)
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+
444
+
445
+
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+ Beta Release 0.4.0 (6 January, 2009)
447
+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
448
+
449
+ In comparison to the release two days ago, this release is mainly tuned
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+ for performance with some tricks I learnt from Bowtie. However, as the
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+ indexing format has also been changed, I have to increase the version
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+ number to 0.4.0 to emphasize that *DATABASE MUST BE RE-INDEXED* with
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+ `bwa index'.
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+
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+ * Improved the speed by about 20%.
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+
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+ * Added multi-threading to `bwa aln'.
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+
459
+ (0.4.0: 6 January 2009, r756)
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+
461
+
462
+
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+ Beta Release 0.3.0 (4 January, 2009)
464
+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ * Added paired-end support by separating SA calculation and alignment
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+ output.
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+
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+ * Added SAM output.
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+
471
+ * Added evaluation to the documentation.
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+
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+ (0.3.0: 4 January 2009, r741)
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+
475
+
476
+
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+ Beta Release 0.2.0 (15 Augusst, 2008)
478
+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
479
+
480
+ * Take the subsequence at the 5'-end as seed. Seeding strategy greatly
481
+ improves the speed for long reads, at the cost of missing a few true
482
+ hits that contain many differences in the seed. Seeding also increase
483
+ the memory by 800MB.
484
+
485
+ * Fixed a bug which may miss some gapped alignments. Fixing the bug
486
+ also slows the speed a little.
487
+
488
+ (0.2.0: 15 August 2008, r428)
489
+
490
+
491
+
492
+ Beta Release 0.1.6 (08 Augusst, 2008)
493
+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
494
+
495
+ * Give accurate CIGAR string.
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+
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+ * Add a simple interface to SW/NW alignment
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+
499
+ (0.1.6: 08 August 2008, r414)
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+
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+
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+
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+ Beta Release 0.1.5 (27 July, 2008)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ * Improve the speed. This version is expected to give the same results.
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+
508
+ (0.1.5: 27 July 2008, r400)
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+
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+
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+
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+ Beta Release 0.1.4 (22 July, 2008)
513
+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ * Fixed a bug which may cause missing gapped alignments.
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+
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+ * More clearly define what alignments can be found by BWA (See
518
+ manual). Now BWA runs a little slower because it will visit more
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+ potential gapped alignments.
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+
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+ * A bit code clean up.
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+
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+ (0.1.4: 22 July 2008, r387)
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+
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+
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+
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+ Beta Release 0.1.3 (21 July, 2008)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Improve the speed with some tricks on retrieving occurences. The results
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+ should be exactly the same as that of 0.1.2.
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+
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+ (0.1.3: 21 July 2008, r382)
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+
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+
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+
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+ Beta Release 0.1.2 (17 July, 2008)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ Support gapped alignment. Codes for ungapped alignment has been removed.
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+
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+ (0.1.2: 17 July 2008, r371)
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+
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+
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+
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+ Beta Release 0.1.1 (03 June, 2008)
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+ ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
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+
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+ This is the first release of BWA, Burrows-Wheeler Alignment tool. Please
550
+ read man page for more information about this software.
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+
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+ (0.1.1: 03 June 2008, r349)
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+
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+
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+