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v0.2.11

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@brentp brentp released this 02 Jul 14:56
· 39 commits to master since this release

This release adds small changes, except that the relatedness calculation has been corrected. It worked for most cases except when the number of sites was extremely low. It is now more accurate in more cases. This was reported by @fgvieira . See below for full release details.

v0.2.11

  • more informative error message on bad sample name (#53)
  • allow setting SOMALIER_AB_HOM_CUTOFF to change which calls are considered hom-ref (#56)
  • adjust (fix) relatedness calculation which was off when the number of shared sites was low (#55).
    many thanks to @fgvieira who found and diagnosed this problem. This change adds a hets_ab column
    which is the count of times sample a was het and b was not unknown + the times sample b was het
    and a was not unknown; this is mostly not needed except to (re) calculate relatedness but is reported
    in the text output for completeness.

Installation

grab the static binary , or use docker via brentp/somalier:v0.2.11

sites files (unchanged from previous releases)

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

sites.hg38.rna.vcf.gz only includes sites likely to be expressed in GTeX