General Session #4

Technical Topics

Sunday, April 13 | 9–10 a.m.

GeneMatcher and VariantMatcher: Phenotypic and Genomic Data Sharing To Facilitate Variant Classification and Disease Gene Discovery

Nara Lygia de Macena Sobreira, M.D., Ph.D., Johns Hopkins University School of Medicine

GeneMatcher and VariantMatcher are freely available web-based tools developed to connect individuals worldwide interested in a specific variant. They enable the sharing of de-identified gene-level, variant-level, and phenotypic data from research participants to discover disease-causing variants and genes. GeneMatcher and VariantMatcher are also connected to other databases to facilitate gene discovery through GA4GH and MatchMaker Exchange projects.