BRCA variant data release

BRCA Variant Data Release From Global Alliance Expands Researchers' Access to Public Data

BRCA variant data release


The Global Alliance for Genomics & Health (GA4GH) has released the second tier of BRCA variant data, integrating information on more than 13,000 variants across public repositories around the world.

Here's what caught my eye: "public variant databases, as they exist today, shouldn't be used for clinical decision making. In a study published last year, Myriad compared pathogenic classifications of 116 BRCA variants across five databases — the Breast Cancer Information Core; LOVD; ClinVar; Inserm's Universal Mutation Database; and the Human Gene Mutation Database — and found that all the databases agreed on the classification for only four variants."

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