Article
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Genome medicine - 24 Aug 2020
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
Abstract excerpt
Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the limited accuracy of current computational prediction methods requires manual classification by experts. Here we introduce CAPICE, a new machine-learning-based method for prioritizing pathogenic variants, including SNVs and short InDels. CAPICE outperforms...
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