Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Ryan J. Schmidt(Children's Hospital of Los Angeles), Kayleigh Avello(West Coast University), Glenn A. Maston(Quest Diagnostics (United States)), Erik G. Puffenberger(Clinic for Special Children), Emily Groopman(West Coast University), Heidi L. Rehm(Unknown), Lauren Zec(Cincinnati Children's Hospital Medical Center), James Harraway(West Coast University), Fergus J. Couch(Mayo Clinic), Erin Rooney Riggs(Autism & Developmental Medicine Institute), Toni I. Pollin(University of Maryland, Baltimore), Bradley P. Coe, Timothy Blake Palculict, Marcie Steeves(Color (United States)), Emily Qian(Yale University), Alicia B. Byrne(Broad Institute), Tina Pesaran(Ambry Genetics (United States)), Jordan Lerner‐Ellis(Ontario Institute for Cancer Research), Samantha L.P. Schilit(Harvard University), Kelly McGoldrick(Ambry Genetics (United States)), Michael H. Gollob(University of Toronto), Minjie Luo(Children's Hospital of Philadelphia), Katherine A. Benson(Royal College of Surgeons in Ireland), Laura K. Conlin(Children's Hospital of Philadelphia), Mythily Ganapathi(Columbia University Irving Medical Center), Vaidehi Jobanputra(Columbia University Irving Medical Center), John Garcia(Invitae (United States)), Tatiana Tvrdik(Emory University), Blake Palculict(West Coast University), Matthew S. Lebo(Brigham and Women's Hospital), Jessica L. Mester(West Coast University), Panagiotis I. Sergouniotis(European Bioinformatics Institute), Hannah Dziadzio(West Coast University), Ma Deqiong, Wenying Zhang(Cincinnati Children's Hospital Medical Center), Amanda B. Spurdle(QIMR Berghofer Medical Research Institute), Elaine Lyon(West Coast University), Pınar Bayrak‐Toydemir(University of Utah), Deqiong Ma(Yale University)
Genetics in Medicine
December 3, 2023
Cited by 67


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