this release has small bugfixes and general usability experiments. see below for the list of changes and the links to the gnotate (zip) file for hg38 genomes from gnomad.
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:v0.1.7
Full release notes:
v0.1.7
- slivar make-gnotate will error with warning if field is not a float or int
- compound-het provides a way to ignore some impacts (intron, non_coding, etc) and sets sane defaults. this removes
most candidates from WGS which were predominantly pairs of intronic or non-coding variants. - compound-het: remove -f flag, this is now discovered by default
- only samples with parents in the vcf (not just ped) are counted as trios
- expose sample.phenotype attribute which is a string taken directly from the pedigree file
- given an error on an INFO expression, don't bail, just report and continue
- fix for VCFs without index AND without contigs in header (#44)
- support for file sizes > 4.2GB and support for gnotate files with chr prefix annotating query files without
- fix gnotate bug where some long alleles were not annotated
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 v0.1.7) here
This zip file is broken. Will be updated soon.
-
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