dbmi-bgm / granite Star 6 Code Issues Pull requests A collection of software to work with genomic variants vcf variants snv variant-filtration variant-analysis snvs trio de-novo-mutation single-nucleotide-variation de-novo-mutations compound-heterozygous Updated Jul 2, 2024 Python
hms-dbmi / RaMeDiES Star 3 Code Issues Pull requests Statistical models for finding de novo recurrence and compound heterozygosity across rare disease patient cohorts statistical-genetics denovo mendelian-genetics rare-disease compound-heterozygous Updated May 22, 2024 Python