Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Ryan J. Schmidt,Marcie Steeves,Pinar Bayrak-Toydemir,Katherine A. Benson,Bradley P. Coe,Laura K. Conlin,Mythily Ganapathi,John Garcia,Michael H. Gollob,Vaidehi Jobanputra,Minjie Luo,Deqiong Ma,Glenn Maston,Kelly Mcgoldrick, T. Blake Palculict,Tina Pesaran,Toni I. Pollin,Emily Qian,Heidi L. Rehm,Erin R. Riggs,Samantha L. P. Schilit,Panagiotis I. Sergouniotis,Tatiana Tvrdik,Nicholas Watkins,Lauren Zec,Wenying Zhang,Matthew S. Lebo GENETICS IN MEDICINE（2024）
关键词
Association studies,Clinical disease risk assessment,Penetrance,Risk allele,Variant classification
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