3 projects
consensuscnv
Graph-based consensus copy-number-variant calling from low-pass WGS, with optional benchmarking against gold-standard call sets.
gnomad-api-cache
Fetch and cache gnomAD annotations for VCF variants.
geneharmony
Async toolkit to normalize gene identifiers and annotate gene sets with data from the Alliance of Genome Resources (AGR) or user-ingested datasets.