ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines
ClinGen变异注释界面:一个用于应用ACMG/AMP指南证据标准的变异分类平台
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-021-01004-8
Preston, Christine G; Wright, Matt W; Madhavrao, Rao; Harrison, Steven M; Goldstein, Jennifer L; Luo, Xi; Wand, Hannah; Wulf, Bryan; Cheung, Gloria; Mandell, Mark E; Tong, Howard; Cheng, Shaung; Iacocca, Michael A; Pineda, Arturo Lopez; Popejoy, Alice B; Dalton, Karen; Zhen, Jimmy; Dwight, Selina S; Babb, Lawrence; DiStefano, Marina; O'Daniel, Julianne M; Lee, Kristy; Riggs, Erin R; Zastrow, Diane B; Mester, Jessica L; Ritter, Deborah I; Patel, Ronak Y; Subramanian, Sai Lakshmi; Milosavljevic, Aleksander; Berg, Jonathan S; Rehm, Heidi L; Plon, Sharon E; Cherry, J Michael; Bustamante, Carlos D; Costa, Helio A