Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
ClinGen低外显率/风险等位基因工作组关于风险等位基因证据整理、分类和报告的建议
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2023.101036
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