v0.1.5
- !!MAJOR: fix bug with
hom_altalias foralts == 2. Since v0.1.3,hom_altwould not get set to false for samples, variants after being set once. coding using e.g.kid.alts == 2is not affected by this bug. - update wiki to simplify rare disease analysis.
- tune javascript in my.js and rare-disease expressions so that many analyses will run
better than twice as fast. - [expr] add
--skip-non-variablewhich further improves speed by not evaluating javascript for a trio if all members are hom-ref or unknown (but can the same variant will
still be evlauated for trios with at least 1 sample that has a variant at that site. - [compound-het] major speed increase for large cohorts.
- [compound-het] remove -i/--index option as this is now discovered from the header for the CSQ/BCSQ field.
binaries and docker
slivar_staticis 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.
users can also use slivar via docker at brentp/slivar:v0.1.5
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
-
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