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GVCF support and parameter changes

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@brentp brentp released this 21 Oct 19:02
· 159 commits to master since this release
v0.2.4
9bf0661
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Learn about vigilant mode.

get started with a binary below, or with docker:brentp/somalier:v0.2.4

v0.2.4

  • unify genotyping between all code-paths (thanks Filipe)
  • if both groups and pedigree information are specified, they correctly share information (#26)
  • relax allele balance to hom-ref is < 0.04 and hom-alt > 0.96 (was 0.02 and 0.98 respectively).
  • support for GVCF (#27)

sites files

These sites files are build-specific, but as of this release, once the sites are extracted, the resulting somalier files can be used to compare samples even across genome builds.

sites.hg19.vcf.gz
sites.hg38.nochr.vcf.gz
sites.GRCh37.vcf.gz
sites.hg38.vcf.gz

Assets 3
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