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1.4 发布: 1.4
Release 1.4 (13 March 2017) Two new commands - `mpileup` and `csq`: * The `mpileup` command has been imported from samtools to bcftools. The reasoning behind this is that bcftools calling is intimately tied to mpileup and any changes to one, often requires changes to the other. Only the genotype likelihood (BCF output) part of mpileup has moved to bcftools, while the textual pileup output remains in samtools. The BCF output option in `samtools mpileup` will likely be removed in a release or two or when changes to `bcftools call` are incompatible with the old mpileup output. The basic mpileup functionality remains unchanged as do most of the command line options, but there are some differences and new features that one should be aware of: - The option `samtools mpileup -t, --output-tags` changed to `bcftools mpileup -a, --annotate` to avoid conflict with the `-t, --targets` option common across other bcftools commands. - `-O, --output-BP` and `-s, --output-MQ` are no longer used as they are only for textual pipelup output, which is not included in `bcftools mpileup`. `-O` short option reassigned to `--output-type` and `-s` reassigned to `--samples` for consistency with other bcftools commands. - `-g, --BCF`, `-v, --VCF`, and ` -u, --uncompressed` options from `samtools mpileup` are no longer used, being replaced by the `-O, --output-type` option common to other bcftools commands. - The `-f, --fasta-ref` option is now required by default to help avoid user errors. Can be diabled using `--no-reference`. - The option `-d, --depth .. max per-file depth` now behaves as expected and according to the documentation, and prints a meaningful diagnostics. - The `-S, --samples-file` can be used to rename samples on the fly. See man page for details. - The `-G, --read-groups` functionality has been extended to allow reassignment, grouping and exclusion of readgroups. See man page for details. - The `-l, --positions` replaced by the `-t, --targets` and `-T, --targets-file` options to be consistent with other bcftools commands. - gVCF output is supported. Per-sample gVCFs created by mpileup can be merged using `bcftools merge --gvcf`. - Can generate mpileup output on multiple (indexed) regions using the `-r, --regions` and `-R, --regions-file` options. In samtools, one was restricted to a single region with the `-r, --region` option. - Several speedups thanks to @jkbonfield (cf3a55a). * `csq`: New command for haplotype-aware variant consequence calling. See man page and [paper](https://www.ncbi.nlm.nih.gov/pubmed/28205675). Updates, improvements and bugfixes for many other commands: * `annotate`: `--collapse` option added. `--mark-sites` now works with VCF files rather than just tab-delimited files. Now possible to annotate a subset of samples from tab file, not just VCF file (#469). Bugfixes (#428). * `call`: New option `-F, --prior-freqs` to take advantage of prior knowledge of population allele frequencies. Improved calculation of the QUAL score particularly for REF sites (#449, 7c56870). `PLs>=256` allowed in `call -m`. Bugfixes (#436). * `concat --naive` now works with vcf.gz in addition to bcf files. * `consensus`: handle variants overlapping region boundaries (#400). * `convert`: gvcf2vcf support for mpileup and GATK. new `--sex` option to assign sex to be used in certain output types (#500). Large speedup of `--hapsample` and `--haplegendsample` (e8e369b) especially with `--threads` option enabled. Bugfixes (#460). * `cnv`: improvements to output (be8b378). * `filter`: bugfixes (#406). * `gtcheck`: improved cross-check mode (#441). * `index` can now specify the path to the output index file. Also, gains the `--threads` option. * `merge`: Large overhaul of `merge` command including support for merging gVCF files created by `bcftools mpileup --gvcf` with the new `-g, --gvcf` option. New options `-F` to control filter logic and `-0` to set missing data to REF. Resolved a number of longstanding issues (#296, #361, #401, #408, #412). * `norm`: Bugfixes (#385,#452,#439), more informative error messages (#364). * `query`: `%END` plus `%POS0`, `%END0` (0-indexed) support - allows easy BED format output (#479). `%TBCSQ` for use with the new `csq` command. Bugfixes (#488,#489). * `plugin`: A number of new plugins: - `GTsubset` (thanks to @dlaehnemann) - `ad-bias` - `af-dist` - `fill-from-fasta` - `fixref` - `guess-ploidy` (deprecates `vcf2sex` plugin) - `isecGT` - `trio-switch-rate` and changes to existing plugins: - `tag2tag`: Added `gp-to-gt`, `pl-to-gl` and `--threshold` options and bugfixes (#475). - `ad-bias`: New `-d` option for minimum depth. - `impute-info`: Bugfix (49a9eaf). - `fill-tags`: Added ability to aggregate tags for sample subgroups, thanks to @mh11. (#503). HWE tag added as an option. - `mendelian`: Bugfix (#566). * `reheader`: allow muiltispace delimiters in `--samples` option. * `roh`: Now possible to process multiple samples at once. This allows considerable speedups for files with thousands of samples where the cost of HMM is neglibible compared to I/O and decompressing. In order to fit tens of thousands samples in memory, a sliding HMM can be used (new `--buffer-size` option). Viterbi training now uses Baum-Welch algorithm, and works much better. Support for gVCFs or FORMAT/PL tags. Added `-o, output` and `-O, --output-type` options to control output of sites or regions (compression optional). Many bugs fixed - do not segfault on missing PL values anymore, a typo in genetic map calculation resulted in a slowdown and incorrect results. * `stats`: Bugfixes (16414e6), new options `-af-bins` and `-af-tags` to control allele frequency binning of output. Per-sample genotype concordance tables added (#477). * `view -a, --trim-alt-alleles` various bugfixes for missing data and more informative errors should now be given on failure to pinpoint problems. General changes: * Timestamps are now added to header lines summarising the command (#467). * Use of the `--threads` options should be faster across the board thanks to changes in HTSlib meaning meaning threads are now shared by the compression and decompression calls. * Changes to genotype filtering with `-i, --include` and `-e, --exclude` (#454).
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1.3.1 发布: 1.3.1
BCFtools release 1.3.1: bug fixes, new GTisec plugin * The concat command has a new --naive option for faster operations on large BCFs (PR #359). * GTisec: new plugin courtesy of David Laehnemann (@dlaehnemann) to count genotype intersections across all possible sample subsets in a VCF file. * Numerous VCF parsing fixes. * Build fix: peakfit.c now builds correctly with GSL v2 (#378). * Various bug fixes and improvements to the annotate (#365), call (#366), index (#367), norm (#368, #385), reheader (#356), and roh (#328) commands, and to the fill-tags (#345) and tag2tag (#394) plugins. * Clarified documentation of view filter options, and of the --regions-file and --targets-file options (#357, #411).
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1.3 发布: 1.3
BCFtools release 1.3: various new options, plugins, bug fixes * bcftools call has new options --ploidy and --ploidy-file to make handling sample ploidy easier. See man page for details. * stats: -i/-e short options changed to -I/-E to be consistent with the filtering -i/-e (--include/--exclude) options used in other tools. * general --threads option to control the number of output compression threads used when outputting compressed VCF or BCF. * cnv & polysomy: new commands for detecting CNVs, aneuploidy, and contamination from SNP genotyping data. * various new options, plugins, and bug fixes, including #84, #201, #204, #205, #208, #211, #222, #225, #242, #243, #249, #282, #285, #289, #302, #311, #318, #336, and #338.
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1.1
Bug fix release, new convert and plugin commands
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0.2.0-rc9
Test release RC9
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0.2.0-rc7
Test release RC7
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0.2.0-rc3
Test release RC3
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0.2.0-rc2
Test release RC2