v0.1.8

• fix bug when subsetting vcfs (ped file contained subset of samples in vcf). Thanks Matt for reporting.

Installation

Just grab the binary
You can download it and use it without any other software. This is the recommended binary.
wget, chmod +x and start analyzing.
users can also use slivar via docker at brentp/slivar:v0.1.8

gnotate annotation files

the gnotation files for fast annotation remain unchanged except for the addition of topmed.
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 (updated in release v0.1.2) here

• gnomad genomes (71,702 samples) for hg38 with AF popmax, numhomalts (updated in release v0.1.8) here

• spliceai scores (maximum value of the 4 scores in spliceai) here

• topmed allele frequencies (via dbsnp) these can be used with INFO.topmed_af. Useful when analyzing data in hg38 because some variants in hg38 are not visible in GRCh37