Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
利用多重功能数据减少代表性不足人群中变异分类的不公平现象
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-024-01392-7
Dawood, Moez; Fayer, Shawn; Pendyala, Sriram; Post, Mason; Kalra, Divya; Patterson, Karynne; Venner, Eric; Muffley, Lara A; Fowler, Douglas M; Rubin, Alan F; Posey, Jennifer E; Plon, Sharon E; Lupski, James R; Gibbs, Richard A; Starita, Lea M; Robles-Espinoza, Carla Daniela; Coyote-Maestas, Willow; Gallego Romero, Irene