Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

  • Authors: 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 Rooney Riggs; Samantha L P Schilit; Panagiotis I Sergouniotis; Tatiana Tvrdik; Nicholas Watkins; Lauren Zec; Wenying Zhang; Matthew S Lebo
  • Collaborators: BC Children's & BC Women's Hospitals; Broad Institute of MIT and Harvard; Color Health; Emory University; Geisinger Autism & Developmental Medicine Institute; GeneDx; Harvard Medical School; Invitae Corporation; Keck School of Medicine of USC; Natera; Perelman School of Medicine at the University of Pennsylvania; Quest Diagnostics; Royal College of Surgeons in Ireland; University of Cincinnati College of Medicine; University of Manchester; University of Maryland School of Medicine; University of Toronto; University of Utah; Yale University School of Medicine
  • Journal: Genetics in medicine : official journal of the American College of Medical Genetics
  • Date: 2024 - Mar

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