We are delighted to unveil a new feature on BRCA Exchange: the provisional assignments of ACMG evidence codes, computed according to the rules of the ClinGen ENIGMA (BRCA1 and BRCA2) Variant Curation Evidence Panel! By the procedures of ClinGen and ClinVar, the ACMG/AMP guidelines for sequence variant interpretation define and standardize the forms of evidence
Read MoreThe BRCA Exchange development team is always looking for ways to improve the quality of service of the exchange. One small yet significant part of that is URLs or hyperlinks that reference variants in the database. Historically, these variants have been internal IDs that are specific to the variant and the version of the variant’s
Read MoreWho are the users of BRCA Exchange, what features do they value, and what are their needs? To assess these questions, we ran on online survey of the BRCA Exchange users, from Jaunary 22, 2023 to August 22. During this time, 160 individuals responded to the survey. While this is a small fraction of the
Read MoreMelissa Cline and JIll Holdren April 14, 2022 DNA is, as we’ve all heard, the building block of life. Our DNA helps determine what we look like, how we behave, and what we like to eat. It also contains information about where we came from and what risks or protections we have to health and
Read MoreWelcome to the first installment of the BRCA Exchange blog! Cancer, like facial features, can run in families. Our genes influence many things about us from what color our eyes are, to the shape of our noses, to our health. Changes to certain genes (also called “variants”, “alterations” or “mutations”) can make people more likely
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