Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
在九项基因组实施研究中,使用 ACMG-AMP 变异解释指南进行变异分类一致性分析
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.09.011
Amendola, Laura M; Muenzen, Kathleen; Biesecker, Leslie G; Bowling, Kevin M; Cooper, Greg M; Dorschner, Michael O; Driscoll, Catherine; Foreman, Ann Katherine M; Golden-Grant, Katie; Greally, John M; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J; Kenny, Eimear E; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C; Rehm, Heidi L; Rolf, Bradley; Roman, Tamara S; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P