Article
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2024
Schmidt Ryan J, Steeves Marcie, Bayrak-Toydemir Pinar, Benson Katherine A, Coe Bradley P, Conlin Laura K, Ganapathi Mythily, Garcia John, Gollob Michael H, Jobanputra Vaidehi, Luo Minjie, Ma Deqiong, Maston Glenn, McGoldrick Kelly, Palculict T Blake, Pesaran Tina, Pollin Toni I, Qian Emily, Rehm Heidi L, Riggs Erin R, Schilit Samantha L P, Sergouniotis Panagiotis I, Tvrdik Tatiana, Watkins Nicholas, Zec Lauren, Zhang Wenying, Lebo Matthew S
Abstract excerpt
PURPOSE: Genetic variants at the low end of the penetrance spectrum have historically been challenging to interpret because their high population frequencies exceed the disease prevalence of the associated condition, leading to a lack of clear segregation between the variant and disease. There is currently substantial variation in the classification of these variants, and no formal classification framework has...
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