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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael G. Anderson, Windy Berkofsky‐Fessler, Sandrine M. Caputo, Raymond C. Chan, Melissa Cline, Bing Feng, Cristina Fortuño, E. Gómez, Johanna Hadler, Susan Hiraki, Megan Holdren, Claude Houdayer, Kathleen S. Hruska, Paul A. James, Rachid Karam, Huei San Leong, Alexandra Martins, Arjen R. Mensenkamp, Álvaro N.A. Monteiro, Vaishnavi Nathan, Robert O’Connor, Inge Søkilde Pedersen, Tina Pesaran, Paolo Radice, Gunnar Schmidt, Melissa C. Southey, Sean V. Tavtigian, Bryony A. Thompson, Amanda E. Toland, Clare Turnbull, Maartje J. Vogel, Jamie Weyandt, George A. R. Wiggins, Lauren Zec, Fergus J. Couch, Logan C. Walker, Maaike P.G. Vreeswijk, David E. Goldgar, Amanda B. Spurdle

2024The American Journal of Human Genetics90 citationsDOIOpen Access PDF

Topics & Concepts

Computational biologyGeneticsGeneComputer scienceBiologyBioinformaticsBRCA gene mutations in cancerGenomics and Rare DiseasesCRISPR and Genetic Engineering
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel | Litcius