v0.1.9
- new command
slivar ddc: https://github.com/brentp/slivar/wiki/data-driven-cutoffs - fix for slivar compound-hets reporting orphaned variants in some cases (thanks Steve Boyden for reporting)
- update to htslib >= 1.10
- change recommended setup for rare disease to use family-based approach, rather than trios as it is more
flexible and now well-tested. (https://github.com/brentp/slivar/wiki/rare-disease#full-analysis-for-trios-with-unaffected-parents) - add
VCFobject available in javascript which gets populated withVCF.CSQ == ["CONSEQUENCE", "CODONS","AMINO_ACIDS", "GENE", ...]and VCF.ANN, VCF.BCSQ if any
or all of those annotations are available in the VCF (see #3)
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:v0.1.9
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