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brentp

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Doing genomics

Funding Links: https://github.com/sponsors/brentp

GitHub Sponsors Profile

I develop and maintain several tools in (moderately) wide use in genomics. Some popular packages include:

peddy and somalier for finding relatedness in cohorts
slivar for variant annotation and filtering with javascript expressions. these expressions are flexible enough to allow finding de novo, compound-het, recessive, etc variants across families.
mosdepth for rapid depth calculation
cyvcf2 for fast VCF parsing and manipulation in python.
vcfanno annotate a VCF with other VCFs or beds using a config file to indicate how fields are extracted and added.
echtvar for rapid variant annotation with allele frequency
slivar for applying simple expressions for filtering variants in trios and families.

Featured Works

brentp/mosdepth

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

Language: Nim - Stars: 732
brentp/vcfanno

annotate a VCF with other VCFs/BEDs/tabixed files

Language: Go - Stars: 371
brentp/smoove

structural variant calling and genotyping with existing tools, but, smoothly.

Language: Go - Stars: 248
brentp/somalier

fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"

Language: Nim - Stars: 277
brentp/slivar

genetic variant expressions, annotation, and filtering for great good.

Language: Nim - Stars: 259
brentp/echtvar

using all the bits for echt rapid variant annotation and filtering

Language: Rust - Stars: 150
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