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find large de novo deletions in parent-child duos.

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@brentp brentp released this 18 Apr 16:16

v0.1.1

for rare disease analysis: https://github.com/brentp/slivar/wiki/rare-disease#full-analysis-for-trios-with-unaffected-parents

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:v0.1.1

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