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@brentp brentp released this 31 Mar 01:50

this release provides a mechanism to use the previous filters (INFO fields with samples names) to tell comphets which samples pass for which variants.

v0.0.9

  • fix bug without --pass-only. slivar always behaved as if --pass-only was used.
  • [compound-hets] fix for multi-sample VCFs with --sample-field

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.
  • 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:v0.0.9

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 (total and controls only) here
  • spliceai scores (maximum value of the 4 scores in spliceai) here