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@brentp brentp released this 08 Mar 21:35

this release is a huge set of changes that brings slivar to what will likely be it's full set of functionality.

there are substantial improvements to the docs, including several wiki pages describing components of slivar in detail.

one key feature of slivar is annotation (called gnotation). this release allows users to create their own gnotation
databases that allow very fast annotation. For example spliceai provides a 2.2GB file of scores for variants in the exome. slivar can reduce this to 536MB and use it to annotate at ~120K variants/second.

The gnomad zip files reduce exome+genome from a total of ~500GB of data to ~2GB.

Users can create their own gnotation files, 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

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

  • slivar_static is a completely static binary.
  • 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:v0.0.6

Feedback is appreciated.