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

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

Authors: Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS

Citation: Genet Med. 2023 Dec 3:101036. doi: 10.1016/j.gim.2023.101036. Online ahead of print.

Specialties: Genetics