Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
疾病特异性变异致病性预测显著提高了遗传性心脏病变异的解读能力。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-00972-3
Zhang, Xiaolei; Walsh, Roddy; Whiffin, Nicola; Buchan, Rachel; Midwinter, William; Wilk, Alicja; Govind, Risha; Li, Nicholas; Ahmad, Mian; Mazzarotto, Francesco; Roberts, Angharad; Theotokis, Pantazis I; Mazaika, Erica; Allouba, Mona; de Marvao, Antonio; Pua, Chee Jian; Day, Sharlene M; Ashley, Euan; Colan, Steven D; Michels, Michelle; Pereira, Alexandre C; Jacoby, Daniel; Ho, Carolyn Y; Olivotto, Iacopo; Gunnarsson, Gunnar T; Jefferies, John L; Semsarian, Chris; Ingles, Jodie; O'Regan, Declan P; Aguib, Yasmine; Yacoub, Magdi H; Cook, Stuart A; Barton, Paul J R; Bottolo, Leonardo; Ware, James S