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ENIGMA is an international consortium of investigators focused on. determining the clinical significance of sequence variants in BRCA1, BRCA2 and other known or suspected breast and/or ovarian predisposition genes, to provide this expert opinion to global database and classification initiatives, and
BRCA Exchange. We are pleased to introduce a new feature: persistent URLs for the variants in BRCA Exchange! More information is available here on the BRCA Exchange blog. This is the BRCA Exchange Summary View. Clinical significance for variants, where denoted, is from expert review by the ENIGMA consortium.
On August 3, 2023 the ClinGen ENIGMA BRCA1/2 Variant Curation Expert Panel (VCEP) was officially approved to conduct sustained variant curation for BRCA1 and BRCA2. The most up-to-date VCEP specifications for application of ACMG/AMP criteria for these genes are available via these links: BRCA1. BRCA2.
ENIGMA. The ENIGMA Consortium brings together researchers in imaging genomics to understand brain structure, function, and disease, based on brain imaging and genetic data. We welcome brain researchers, imagers, geneticists, methods developers, and others interested in cracking the neuro-genetic code! The ENIGMA Consortium has several goals:
19 dic 2019 · Open access. Published: 19 December 2019. Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large...
- Hongyan Li, Holly LaDuca, Tina Pesaran, Elizabeth C. Chao, Jill S. Dolinsky, Michael Parsons, Amanda...
- 2020
8 dic 2020 · Open access. Published: 08 December 2020. A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays. Kajal Biswas, Gary B. Lipton, Stacey...
ENIGMA—Evidence‐based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes - Spurdle - 2012 - Human Mutation - Wiley Online Library.
