1 Beta Release 0.1.15 (10 April, 2011)
2 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
6 * Allow to perform variant calling or to extract information in multiple
7 regions specified by a BED file (`samtools mpileup -l', `samtools view -L'
8 and `bcftools view -l').
10 * Added the `depth' command to samtools to compute the per-base depth with a
11 simpler interface. File `bam2depth.c', which implements this command, is the
12 recommended example on how to use the mpileup APIs.
14 * Estimate genotype frequencies with ML; perform chi^2 based Hardy-Weinberg
15 test using this estimate.
17 * For `samtools view', when `-R' is specified, drop read groups in the header
18 that are not contained in the specified file.
20 * For `samtools flagstat', separate QC-pass and QC-fail reads.
22 * Improved the command line help of `samtools mpileup' and `bcftools view'.
24 * Use a global variable to control the verbose level of samtools stderr
25 output. Nonetheless, it has not been full utilized.
27 * Fixed an issue in association test which may report false associations,
28 possibly due to floating point underflow.
30 (0.1.15: 10 April 2011, r949:203)
34 Beta release 0.1.14 (21 March, 2011)
35 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
37 This release implements a method for testing associations for case-control
38 data. The method does not call genotypes but instead sums over all genotype
39 configurations to compute a chi^2 based test statistics. It can be potentially
40 applied to comparing a pair of samples (e.g. a tumor-normal pair), but this
41 has not been evaluated on real data.
43 Another new feature is to make X chromosome variant calls when female and male
44 samples are both present. The user needs to provide a file indicating the
45 ploidy of each sample (see also manual bcftools/bcftools.1).
47 Other notable changes:
49 * Added `bcftools view -F' to parse BCF files generated by samtools r921 or
50 older which encodes PL in a different way.
52 * Changed the behavior of `bcftools view -s'. Now when a list of samples is
53 provided, the samples in the output will be reordered to match the ordering
54 in the sample list. This change is mainly designed for association test.
56 * Sped up `bcftools view -v' for target sequencing given thousands of samples.
57 Also added a new option `view -d' to skip loci where only a few samples are
60 * Dropped HWE test. This feature has never been implemented properly. An EM
61 should be much better. To be implemented in future.
63 * Added the `cat' command to samtools. This command concatenate BAMs with
64 identical sequence dictionaries in an efficient way. Modified from bam_cat.c
65 written by Chris Saunders.
67 * Added `samtools view -1' to write BAMs at a low compression level but twice
68 faster to create. The `sort' command generates temporary files at a low
69 compression level as well.
71 * Added `samtools mpileup -6' to accept "BAM" with Illumina 1.3+ quality
72 strings (strictly speaking, such a file is not BAM).
74 * Added `samtools mpileup -L' to skip INDEL calling in regions with
75 excessively high coverage. Such regions dramatically slow down mpileup.
77 * Updated `misc/export2sam.pl', provided by Chris Saunders from Illumina Inc.
79 (0.1.14: 21 March 2011, r933:170)
83 Beta release 0.1.13 (1 March, 2011)
84 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
86 The most important though largely invisible modification is the change of the
87 order of genotypes in the PL VCF/BCF tag. This is to conform the upcoming VCF
88 spec v4.1. The change means that 0.1.13 is not backward compatible with VCF/BCF
89 generated by samtools older than r921 inclusive. VCF/BCF generated by the new
90 samtools will contain a line `##fileformat=VCFv4.1' as well as the samtools
93 Single Individual Haplotyping (SIH) is added as an experimental feature. It
94 originally aims to produce haploid consensus from fosmid pool sequencing, but
95 also works with short-read data. For short reads, phased blocks are usually too
96 short to be useful in many applications, but they can help to rule out part of
97 SNPs close to INDELs or between copies of CNVs.
100 Other notable changes in samtools:
102 * Construct per-sample consensus to reduce the effect of nearby SNPs in INDEL
103 calling. This reduces the power but improves specificity.
105 * Improved sorting order checking in indexing. Now indexing is the preferred way
106 to check if a BAM is sorted.
108 * Added a switch `-E' to mpileup and calmd. This option uses an alternative way
109 to apply BAQ, which increases sensistivity, especially to MNPs, at the cost of
110 a little loss in specificity.
112 * Added `mpileup -A' to allow to use reads in anomalous pairs in SNP calling.
114 * Added `mpileup -m' to allow fine control of the collection of INDEL candidates.
116 * Added `mpileup -S' to compute per-sample strand bias P-value.
118 * Added `mpileup -G' to exclude read groups in variant calling.
120 * Fixed segfault in indel calling related to unmapped and refskip reads.
122 * Fixed an integer overflow in INDEL calling. This bug produces wrong INDEL
123 genotypes for longer short INDELs, typically over 10bp.
125 * Fixed a bug in tview on big-endian machines.
127 * Fixed a very rare memory issue in bam_md.c
129 * Fixed an out-of-boundary bug in mpileup when the read base is `N'.
131 * Fixed a compiling error when the knetfile library is not used. Fixed a
132 library compiling error due to the lack of bam_nt16_nt4_table[] table.
133 Suppress a compiling warning related to the latest zlib.
136 Other notable changes in bcftools:
138 * Updated the BCF spec.
140 * Added the `FQ' VCF INFO field, which gives the phred-scaled probability
141 of all samples being the same (identical to the reference or all homozygous
142 variants). Option `view -f' has been dropped.
144 * Implementated of "vcfutils.pl vcf2fq" to generate a consensus sequence
145 similar to "samtools.pl pileup2fq".
147 * Make sure the GT FORMAT field is always the first FORMAT to conform the VCF
148 spec. Drop bcf-fix.pl.
150 * Output bcftools specific INFO and FORMAT in the VCF header.
152 * Added `view -s' to call variants from a subset of samples.
154 * Properly convert VCF to BCF with a user provided sequence dictionary. Nonetheless,
155 custom fields are still unparsed and will be stored as a missing value.
157 * Fixed a minor bug in Fisher's exact test; the results are rarely changed.
160 (0.1.13: 1 March 2011, r926:134)
164 Beta release 0.1.12a (2 December, 2010)
165 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
167 This is another bug fix release:
169 * Fixed a memory violation in mpileup, which causes segfault. Release
170 0.1.9 and above are affected.
172 * Fixed a memory violation in the indel caller, which does not causes
173 segfault, but may potentially affect deletion calls in an unexpected
174 way. Release 0.1.10 and above are affected.
176 * Fixed a bug in computing r-square in bcftools. Few are using this
177 functionality and it only has minor effect.
179 * Fixed a memory leak in bam_fetch().
181 * Fixed a bug in writing meta information to the BAM index for the last
182 sequence. This bug is invisible to most users, but it is a bug anyway.
184 * Fixed a bug in bcftools which causes false "DP4=0,0,0,0" annotations.
186 (0.1.12: 2 December 2010, r862)
190 Beta release 0.1.11 (21 November, 2010)
191 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
193 This is mainly a bug fix release:
195 * Fixed a bug in random retrieval (since 0.1.8). It occurs when reads
196 are retrieved from a small region containing no reads.
198 * Fixed a bug in pileup (since 0.1.9). The bug causes an assertion
199 failure when the first CIGAR operation is a deletion.
201 * Improved fault tolerence in remote access.
203 One minor feature has been implemented in bcftools:
205 * Added a reference-free variant calling mode. In this mode, a site is
206 regarded as a variat iff the sample(s) contains two or more alleles;
207 the meaning of the QUAL field in the VCF output is changed
208 accordingly. Effectively, the reference allele is irrelevant to the
209 result in the new mode, although the reference sequence has to be
210 used in realignment when SAMtools computes genotype likelihoods.
212 In addition, since 0.1.10, the `pileup' command has been deprecated by
213 `mpileup' which is more powerful and more accurate. The `pileup' command
214 will not be removed in the next few releases, but new features will not
217 (0.1.11: 21 November 2010, r851)
221 Beta Release 0.1.10 (16 November, 2010)
222 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
224 This release is featured as the first major improvement to the indel
225 caller. The method is similar to the old one implemented in the pileup
226 command, but the details are handled more carefully both in theory and
227 in practice. As a result, the new indel caller usually gives more
228 accurate indel calls, though at the cost of sensitivity. The caller is
229 implemented in the mpileup command and is invoked by default. It works
230 with multiple samples.
232 Other notable changes:
234 * With the -r option, the calmd command writes the difference between
235 the original base quality and the BAQ capped base quality at the BQ
236 tag but does not modify the base quality. Please use -Ar to overwrite
237 the original base quality (the 0.1.9 behavior).
239 * Allow to set a maximum per-sample read depth to reduce memory. In
240 0.1.9, most of memory is wasted for the ultra high read depth in some
241 regions (e.g. the chr1 centromere).
243 * Optionally write per-sample read depth and per-sample strand bias
246 * Compute equal-tail (Bayesian) credible interval of site allele
247 frequency at the CI95 VCF annotation.
249 * Merged the vcfutils.pl varFilter and filter4vcf for better SNP/indel
252 (0.1.10: 16 November 2010, r829)
256 Beta Release 0.1.9 (27 October, 2010)
257 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
259 This release is featured as the first major improvement to the samtools'
260 SNP caller. It comes with a revised MAQ error model, the support of
261 multi-sample SNP calling and the computation of base alignment quality
264 The revised MAQ error model is based on the original model. It solves an
265 issue of miscalling SNPs in repetitive regions. Althought such SNPs can
266 usually be filtered at a later step, they mess up unfiltered calls. This
267 is a theoretical flaw in the original model. The revised MAQ model
268 deprecates the orginal MAQ model and the simplified SOAPsnp model.
270 Multi-sample SNP calling is separated in two steps. The first is done by
271 samtools mpileup and the second by a new program, bcftools, which is
272 included in the samtools source code tree. Multi-sample SNP calling also
273 works for single sample and has the advantage of enabling more powerful
274 filtration. It is likely to deprecate pileup in future once a proper
275 indel calling method is implemented.
277 BAQ is the Phred-scaled probability of a read base being wrongly
278 aligned. Capping base quality by BAQ has been shown to be very effective
279 in suppressing false SNPs caused by misalignments around indels or in
280 low-complexity regions with acceptable compromise on computation
281 time. This strategy is highly recommended and can be used with other SNP
284 In addition to the three major improvements, other notable changes are:
286 * Changes to the pileup format. A reference skip (the N CIGAR operator)
287 is shown as '<' or '>' depending on the strand. Tview is also changed
290 * Accelerated pileup. The plain pileup is about 50% faster.
292 * Regional merge. The merge command now accepts a new option to merge
293 files in a specified region.
295 * Fixed a bug in bgzip and razip which causes source files to be
296 deleted even if option -c is applied.
298 * In APIs, propogate errors to downstream callers and make samtools
299 return non-zero values once errors occur.
301 (0.1.9: 27 October 2010, r783)
305 Beta Release 0.1.8 (11 July, 2010)
306 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
308 Notable functional changes:
310 * Added the `reheader' command which replaces a BAM header with a new
311 header. This command is much faster than replacing header by
312 BAM->SAM->BAM conversions.
314 * Added the `mpileup' command which computes the pileup of multiple
317 * The `index' command now stores the number of mapped and unmapped
318 reads in the index file. This information can be retrieved quickly by
319 the new `idxstats' command.
321 * By default, pileup used the SOAPsnp model for SNP calling. This
322 avoids the floating overflow in the MAQ model which leads to spurious
323 calls in repetitive regions, although these calls will be immediately
324 filtered by varFilter.
326 * The `tview' command now correctly handles CIGARs like 7I10M and
327 10M1P1I10M which cause assertion failure in earlier versions.
329 * Tview accepts a region like `=10,000' where `=' stands for the
330 current sequence name. This saves typing for long sequence names.
332 * Added the `-d' option to `pileup' which avoids slow indel calling
333 in ultradeep regions by subsampling reads locally.
335 * Added the `-R' option to `view' which retrieves alignments in read
336 groups listed in the specified file.
338 Performance improvements:
340 * The BAM->SAM conversion is up to twice faster, depending on the
341 characteristic of the input.
343 * Parsing SAM headers with a lot of reference sequences is now much
346 * The number of lseek() calls per query is reduced when the query
347 region contains no read alignments.
351 * Fixed an issue in the indel caller that leads to miscall of indels.
352 Note that this solution may not work well when the sequencing indel
353 error rate is higher than the rate of SNPs.
355 * Fixed another issue in the indel caller which may lead to incorrect
358 * Fixed a bug in `sort' when option `-o' is applied.
360 * Fixed a bug in `view -r'.
362 APIs and other changes:
364 * Added iterator interfaces to random access and pileup. The callback
365 interfaces directly call the iterator interfaces.
367 * The BGZF blocks holding the BAM header are indepedent of alignment
368 BGZF blocks. Alignment records shorter than 64kB is guaranteed to be
369 fully contained in one BGZF block. This change is fully compatible
370 with the old version of samtools/picard.
372 Changes in other utilities:
374 * Updated export2sam.pl by Chris Saunders.
376 * Improved the sam2vcf.pl script.
378 * Added a Python version of varfilter.py by Aylwyn Scally.
380 (0.1.8: 11 July 2010, r613)
384 Beta Release 0.1.7 (10 November, 2009)
385 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
389 * Improved the indel caller in complex scenariors, in particular for
390 long reads. The indel caller is now able to make reasonable indel
391 calls from Craig Venter capillary reads.
393 * Rewrote single-end duplicate removal with improved
394 performance. Paired-end reads are not touched.
396 * Duplicate removal is now library aware. Samtools remove potential
397 PCR/optical dupliates inside a library rather than across libraries.
399 * SAM header is now fully parsed, although this functionality is not
400 used in merging and so on.
402 * In samtools merge, optionally take the input file name as RG-ID and
403 attach the RG tag to each alignment.
405 * Added FTP support in the RAZF library. RAZF-compressed reference
406 sequence can be retrieved remotely.
408 * Improved network support for Win32.
410 * Samtools sort and merge are now stable.
412 Changes in other utilities:
414 * Implemented sam2vcf.pl that converts the pileup format to the VCF
417 * This release of samtools is known to work with the latest
418 Bio-Samtools Perl module.
420 (0.1.7: 10 November 2009, r510)
424 Beta Release 0.1.6 (2 September, 2009)
425 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
429 * In tview, do not show a blank screen when no reads mapped to the
430 corresponding region.
432 * Implemented native HTTP support in the BGZF library. Samtools is now
433 able to directly open a BAM file on HTTP. HTTP proxy is also
434 supported via the "http_proxy" environmental variable.
436 * Samtools is now compitable with the MinGW (win32) compiler and the
439 * The calmd (or fillmd) command now calculates the NM tag and replaces
440 MD tags if they are wrong.
442 * The view command now recognizes and optionally prints FLAG in HEXs or
443 strings to make a SAM file more friendly to human eyes. This is a
444 samtools-C extension, not implemented in Picard for the time
445 being. Please type `samtools view -?' for more information.
447 * BAM files now have an end-of-file (EOF) marker to facilitate
448 truncation detection. A warning will be given if an on-disk BAM file
449 does not have this marker. The warning will be seen on BAM files
450 generated by an older version of samtools. It does NO harm.
452 * New key bindings in tview: `r' to show read names and `s' to show
453 reference skip (N operation) as deletions.
455 * Fixed a bug in `samtools merge -n'.
457 * Samtools merge now optionally copies the header of a user specified
458 SAM file to the resultant BAM output.
460 * Samtools pileup/tview works with a CIGAR with the first or the last
461 operation is an indel.
463 * Fixed a bug in bam_aux_get().
466 Changes in other utilies:
468 * Fixed wrong FLAG in maq2sam.
471 (0.1.6: 2 September 2009, r453)
475 Beta Release 0.1.5 (7 July, 2009)
476 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
480 * Support opening a BAM alignment on FTP. Users can now use "tview" to
481 view alignments at the NCBI ftp site. Please read manual for more
484 * In library, propagate errors rather than exit or complain assertion
487 * Simplified the building system and fixed compiling errors caused by
490 * Fixed an issue about lost header information when a SAM is imported
493 * Implemented "samtool.pl varFilter" which filters both SNPs and short
494 indels. This command replaces "indelFilter".
496 * Implemented "samtools.pl pileup2fq" to generate FASTQ consensus from
499 * In pileup, cap mapping quality at 60. This helps filtering when
500 different aligners are in use.
502 * In pileup, allow to output variant sites only.
504 * Made pileup generate correct calls in repetitive region. At the same
505 time, I am considering to implement a simplified model in SOAPsnp,
506 although this has not happened yet.
508 * In view, added '-u' option to output BAM without compression. This
509 option is preferred when the output is piped to other commands.
511 * In view, added '-l' and '-r' to get the alignments for one library or
512 read group. The "@RG" header lines are now partially parsed.
514 * Do not include command line utilities to libbam.a.
516 * Fixed memory leaks in pileup and bam_view1().
518 * Made faidx more tolerant to empty lines right before or after FASTA >
522 Changes in other utilities:
524 * Updated novo2sam.pl by Colin Hercus, the key developer of novoalign.
527 This release involves several modifications to the key code base which
528 may potentially introduce new bugs even though we have tried to minimize
529 this by testing on several examples. Please let us know if you catch
532 (0.1.5: 7 July 2009, r373)
536 Beta Release 0.1.4 (21 May, 2009)
537 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
541 * Added the 'rmdupse' command: removing duplicates for SE reads.
543 * Fixed a critical bug in the indel caller: clipped alignments are not
546 * Fixed a bug in the tview: gapped alignment may be incorrectly
549 * Unified the interface to BAM and SAM I/O. This is done by
550 implementing a wrapper on top of the old APIs and therefore old APIs
551 are still valid. The new I/O APIs also recognize the @SQ header
554 * Generate the MD tag.
556 * Generate "=" bases. However, the indel caller will not work when "="
559 * Enhanced support of color-read display (by Nils Homer).
561 * Implemented the GNU building system. However, currently the building
562 system does not generate libbam.a. We will improve this later. For
563 the time being, `make -f Makefile.generic' is preferred.
565 * Fixed a minor bug in pileup: the first read in a chromosome may be
568 * Fixed bugs in bam_aux.c. These bugs do not affect other components as
569 they were not used previously.
571 * Output the 'SM' tag from maq2sam.
573 (0.1.4: 21 May 2009, r297)
577 Beta Release 0.1.3 (15 April, 2009)
578 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
580 Notable changes in SAMtools:
582 * SAMtools is more consistent with the specification: a) '*' in the
583 QUAL field is allowed; b) the field separator is TAB only and SPACE
584 is treated as a character in a field; c) empty header is allowed.
586 * Implemented GLFv3 support in pileup.
588 * Fixed a severe bug in fixmate: strand information is wrongly
591 * Fixed a bug in alignment retrieval: alignments bridging n*16384bp are
592 not correctly retrieved sometimes.
594 * Fixed a bug in rmdup: segfault if unmapped reads are present.
596 * Move indel_filter.pl to samtools.pl and improved the filtering by
597 checking the actual number of alignments containing indels. The indel
598 pileup line is also changed a little to make this filtration easier.
600 * Fixed a minor bug in indexing: the bin number of an unmapped read is
603 * Added `flagstat' command to show statistics on the FLAG field.
605 * Improved indel caller by setting the maximum window size in local
608 Changes in other utilities:
610 * Fixed a bug in maq2sam: a tag name is obsolete.
612 * Improvement to wgsim: a) added support for SOLiD read simulation; b)
613 show the number of substitutions/indels/errors in read name; c)
614 considerable code clean up.
616 * Various converters: improved functionality in general.
618 * Updated the example SAM due to the previous bug in fixmate.
620 (0.1.3: 15 April 2009, r227)
624 Beta Release 0.1.2 (28 January, 2008)
625 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
627 Notable changes in SAMtools:
629 * Implemented a Bayesian indel caller. The new caller generate scores
630 and genotype and is potentially more accurate than Maq's indel
631 caller. The pileup format is also changed accordingly.
633 * Implemented rmdup command: remove potential PCR duplicates. Note that
634 this command ONLY works for FR orientation and requires ISIZE is
637 * Added fixmate command: fill in mate coordinates, ISIZE and mate
638 related flags from a name-sorted alignment.
640 * Fixed a bug in indexing: reads bridging 16x kbp were not retrieved.
642 * Allow to select reads shown in the pileup output with a mask.
644 * Generate GLFv2 from pileup.
646 * Added two more flags for flagging PCR/optical duplicates and for QC
649 * Fixed a bug in sort command: name sorting for large alignment did not
652 * Allow to completely disable RAZF (using Makefile.lite) as some people
653 have problem to compile it.
655 * Fixed a bug in import command when there are reads without
658 * Fixed a bug in tview: clipping broke the alignment viewer.
660 * Fixed a compiling error when _NO_CURSES is applied.
662 * Fixed a bug in merge command.
664 Changes in other utilities:
666 * Added wgsim, a paired-end reads simulator. Wgsim was adapted from
667 maq's reads simulator. Colin Hercus further improved it to allow
670 * Added wgsim_eval.pl, a script that evaluates the accuracy of
671 alignment on reads generated by wgsim.
673 * Added soap2sam.pl, a SOAP2->SAM converter. This converter does not
674 work properly when multiple hits are output.
676 * Added bowtie2sam.pl, a Bowtie->SAM converter. Only the top hit will
677 be retained when multiple hits are present.
679 * Fixed a bug in export2sam.pl for QC reads.
681 * Support RG tag at MAQ->SAM converter.
683 * Added novo2sam.pl, a NovoAlign->SAM converter. Multiple hits and
684 indel are not properly handled, though.
686 * Added zoom2sam.pl, a ZOOM->SAM converter. It only works with the
687 default Illumina output.
689 (0.1.2: 28 January 2008; r116)
693 Beta Release 0.1.1 (22 December, 2008)
694 ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
696 The is the first public release of samtools. For more information,
697 please check the manual page `samtools.1' and the samtools website
698 http://samtools.sourceforge.net