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 Kaitlin Samocha
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.