학술논문
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Document Type
Article
Author
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.; Byrne, Alicia; Spurdle, Amanda; Palculict, Blake; Coe, Bradley; Deqiong, Ma; Lyon, Elaine; Groopman, Emily; Qian, Emily; Puffenberger, Erik; Riggs, Erin; Couch, Fergus; Maston, Glenn; Dziadzio, Hannah; Harraway, James; Mester, Jessica; Garcia, John; Lerner-Ellis, Jordan; Benson, Katherine; Avello, Kayleigh; McGoldrick, Kelly; Conlin, Laura; Zec, Lauren; Steeves, Marcie; Richardson, Marcy; Lebo, Matt; Kelly, Melissa; Gollob, Michael; Luo, Minjie; Ganapathi, Mythily; Watkins, Nicholas; Niu, Nifang; Sergouniotis, Panagiotis; Bayrak-Toydemir, Pinar; Schmidt, Ryan; Schilit, Samantha; Richards, Sarah; Pesaran, Tina; Pollin, Toni; Jobanputra, Vaidehi; Zhang, Wenying; Chen, Wuyan; Fan, Yuxin
Source
Genetics in Medicine; March 2024, Vol. 26 Issue: 3
Subject
Language
ISSN
10983600; 15300366
Abstract
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 been widely adopted. The Clinical Genome Resource Low Penetrance/Risk Allele Working Group was formed to address these challenges and promote harmonization within the clinical community.