Today we are pleased to announce the incorporation of cumulative counts of gnomAD individuals carrying pairs of rare co-occurring variants within genes in the gnomAD v2 browser, across various allele frequencies and functional consequences. These counts can be used to evaluate how frequently rare variant co-occurrence is observed in a large reference population. We envision that this data will aid the medical genetics community in interpreting the clinical significance of rare co-occurring variants found in patients, in the context of autosomal recessive disease. This feature builds off of our variant co-occurrence (inferred phasing) work (see “Variant Co-Occurrence (Phasing) Information in gnomAD”).
Posts by Anne O’Donnell-Luria
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.