Genetics in Medicine Open (Jan 2023)
O31: Risk allele evidence curation, classification, and reporting: Recommendations from the ClinGen Low Penetrance/Risk Allele Working Group*
- Matthew Lebo,
- Marcie Steeves,
- Katherine Benson,
- Laura Conlin,
- Mythily Ganapathi,
- Vaidehi Jobanputra,
- Minjie Luo,
- Deqiong Ma,
- Kelly McGoldrick,
- Blake Palculict,
- Heidi Rehm,
- Panagiotis Sergouniotis,
- Samantha Schilit,
- Pinar Bayrak-Toydemir,
- Tatiana Tvrdik,
- Nicholas Watkins,
- Lauren Zec,
- Wenying Zhang Zhang,
- Ryan Schmidt
Affiliations
- Matthew Lebo
- Mass General Brigham, Brigham and Women's Hospital, Broad Institute of MIT and Harvard
- Marcie Steeves
- Color Health, Inc.
- Katherine Benson
- Royal College of Surgeons in Ireland
- Laura Conlin
- Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania
- Mythily Ganapathi
- Columbia University Irving Medical Center
- Vaidehi Jobanputra
- New York Genome Center; Columbia University Irving Medical Center
- Minjie Luo
- Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania
- Deqiong Ma
- DNA Diagnostic Lab, School of Medicine, Yale University
- Kelly McGoldrick
- Ambry Genetics
- Blake Palculict
- GeneDx/Sema4
- Heidi Rehm
- Massachusetts General Hospital, Broad Institute of MIT and Harvard
- Panagiotis Sergouniotis
- University of Manchester, UK
- Samantha Schilit
- Mass General Brigham
- Pinar Bayrak-Toydemir
- University of Utah, ARUP Laboratories
- Tatiana Tvrdik
- Emory University School of Medicine
- Nicholas Watkins
- Sinai Health System
- Lauren Zec
- Natera
- Wenying Zhang Zhang
- Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine
- Ryan Schmidt
- Children's Hospital Los Angeles, Keck School of Medicine of USC
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100457