CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
CAPICE:一种用于临床外显子组变异致病性解释的计算方法,该方法无需考虑后果。
期刊:Genome Medicine
影响因子:11.2
doi:10.1186/s13073-020-00775-w
Li, Shuang; van der Velde, K Joeri; de Ridder, Dick; van Dijk, Aalt D J; Soudis, Dimitrios; Zwerwer, Leslie R; Deelen, Patrick; Hendriksen, Dennis; Charbon, Bart; van Gijn, Marielle E; Abbott, Kristin; Sikkema-Raddatz, Birgit; van Diemen, Cleo C; Kerstjens-Frederikse, Wilhelmina S; Sinke, Richard J; Swertz, Morris A