Tools for manipulating variant calls in the Variant Call Format (VCF)

Edit Package bcftools

Package for the new BCFtools: a set of utilities that manipulate variant calls in the Variant Call Format (VCF) and its binary counterpart BCF. It contains all the "vcf..." commands which previously lived in the HTSlib repository (such as vcfcheck, vcfmerge, vcfisec, etc.) and the samtools BCF calling from bcftools subdirectory of samtools. BCFtools are meant as a faster replacement for most of the perl VCFtools commands.

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Source Files
Filename Size Changed
bcftools-1.10.2.tar.bz2 0003702679 3.53 MB
bcftools.changes 0000009420 9.2 KB
bcftools.spec 0000002725 2.66 KB
Revision 7 (latest revision is 20)
Pierre Bonamy's avatar Pierre Bonamy (flyos) accepted request 770397 from Todd R's avatar Todd R (TheBlackCat) (revision 7)
- Update to 1.10.2
  * This release fixes crashes reported on files including integer
    INFO tags with values outside the range officially supported
    by VCF. It also fixes a bug where invalid BCF files would be
    created if such values were present.
- Update to 1.10.0
  + Numerous bug fixes, usability improvements and sanity checks were added to prevent common user errors.
  + The -r, --regions (and -R, --regions-file) option should never create unsorted VCFs or duplicates records again. This also fixes rare cases where a spanning deletion makes a subsequent record invisible to bcftools isec and other commands.
  + Additions to filtering and formatting expressions
    * support for the spanning deletion alternate allele (ALT=*)
    * new ILEN filtering expression to be able to filter by indel length
    * new MEAN, MEDIAN, MODE, STDEV, phred filtering functions
    * new formatting expression %PBINOM (phred-scaled binomial probability), %INFO (the whole INFO column), %FORMAT (the whole FORMAT column), %END (end position of the REF allele), %END0 (0-based end position of the REF allele), %MASK (with multiple files indicates the presence of the site in other files)
  + New plugins
    * +gvcfz: compress gVCF file by resizing gVCF blocks according to specified criteria
    * +indel-stats: collect various indel-specific statistics
    * +parental-origin: determine parental origin of a CNV region
    * +remove-overlaps: remove overlapping variants.
    * +split-vep: query structured annotations such INFO/CSQ created by bcftools/csq or VEP
    * +trio-dnm: screen variants for possible de-novo mutations in trios
  + annotate
    * new -l, --merge-logic option for combining multiple overlapping regions
  + call
    * new bcftools call -G, --group-samples option which allows grouping samples into populations and applying the HWE assumption within but not across the groups.
  + csq
    * significant reduction of memory usage in the local -l mode for VCFs with thousands of samples and 20% reduction in the non-local haplotype-aware mode.
    * fixes a small memory leak and formatting issue in FORMAT/BCSQ at sites with many consequences
    * do not print protein sequence of start_lost events
    * support for "start_retained" consequence
    * support for symbolic insertions (ALT="<INS...>"), "feature_elongation" consequence
    * new -b, --brief-predictions option to output abbreviated protein predictions.
  + concat
    * the --naive command now checks header compatibility when concatenating multiple files.
  + consensus
    * add a new -H, --haplotype 1pIu/2pIu feature to output first/second allele for phased genotypes and the IUPAC code for unphased genotypes
    * new -p, --prefix option to add a prefix to sequence names on output
  + +contrast
    * added support for Fisher's test probability and other annotations
  + +fill-from-fasta
    * new -N, --replace-non-ACGTN option
  + +dosage
    * fix some serious bugs in dosage calculation
  + +fill-tags
    * extended to perform simple on-the-fly calculations such as calculating INFO/DP from FORMAT/DP.
  + merge
    * add support for merging FORMAT strings
    * bug fixed in gVCF merging
  + mpileup
    * a new optional SCR annotation for the number of soft-clipped reads
  + reheader
    * new -f, --fai option for updating contig lines in the VCF header
  + +trio-stats
    * extend output to include DNM homs and recurrent DNMs
  + VariantKey support
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