github brentp/slivar v0.1.2
general bugfixes and new tsv command

latest releases: v0.3.4, v0.3.3, v0.3.2...
7 years ago

this release has a new command that allows a user to create a spreadsheet from a (slivar) filtered VCF.
See the wiki for full details

v0.1.2

  • new sub-command slivar tsv to output a tab-separated value file from a filtered VCF for final processing
    this command also allows adding columns based on the gene the variant is in, such as description of gene
    function, pLI, etc.
  • fix bug where slivar expr would segfault if labels were re-used (now quits with error message)
  • better help in slivar make-gnotate
  • improve and document output format for duo-del https://github.com/brentp/slivar/wiki/finding-deletions-in-parent-child-duos
  • add a prelude function with hasSample(INFO, key, sample) to see if sample has been added to info field by previous filter.
  • allow outputting summary table to file with SLIVAR_SUMMARY_FILE environment variable
  • fix for make-gnotate with multiple files (still requires first file to contain all chromosomes)
  • allow more kinds of pedigree files (#30)
  • change format of slivar compound het field: adds an id that uniquely identifies the pair of variants.
binaries and annotation files

There are 2 binaries for this release. Both are 64bit linux binaries.

  • slivar_static is a completely static binary. you can download it and use it without any other software. This is the recommended binary. You can wget, chmod +x and start analyzing.
  • slivar_shared depends on a libhts.so. it has the advantage of allowing access to files on s3 or https if that is needed.

users can also use slivar via docker at brentp/slivar:v0.1.2

the gnotation files for fast annotation remain unchanged.
Users can create their own gnotation files with slivar make-gnotate, but we provide:

  • gnomad for hg37 with AF popmax, numhomalts (total and controls only) here
  • gnomad for hg38 with AF popmax, numhomalts (updated in release v0.1.2) here
  • spliceai scores (maximum value of the 4 scores in spliceai) here

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