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  • 1.4
    d6a88013 · Release 1.4: summary ·
    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).
    
    
  • 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).
    
  • 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.
  • 1.2 发布:
    New consensus command, new annotate and convert features
  • 1.1
    Bug fix release, new convert and plugin commands
  • 1.0
    First BCFtools release (HTSlib-based)
  • 0.2.0-rc12
    Test release RC12
  • 0.2.0-rc11
    Test release RC11
  • 0.2.0-rc10
    eeafbaca · New "reheader" command ·
    Test release RC10
  • 0.2.0-rc9
    Test release RC9
  • 0.2.0-rc8
    860d5589 · Updated tests ·
    Test release RC8
  • 0.2.0-rc7
    Test release RC7
  • 0.2.0-rc6
    Test release RC6
  • 0.2.0-rc5
    9f0acb8b · Makefile dependency fixes ·
    Test release RC5
  • 0.2.0-rc4
    Test release RC4
  • 0.2.0-rc3
    Test release RC3
  • 0.2.0-rc2
    Test release RC2
  • 0.2.0-rc1
    ea4e9ee2 · Add "make install" target ·
    Test release RC1
  • 0.1.0
    71048834 · Moved code from htslib. ·
    Initial release. [HTSlib #7508806, 2013-07-12]
  • vcf-direct-final