CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Shuang� Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E van Gijn, Kristin M. Abbott, Birgit Sikkema‐Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, Morris A. Swertz
CAPICE is a machine learning method that prioritizes pathogenic variants in exomes, outperforming existing tools for rare and ultra-rare variants.
Genome Medicine · Aug 24, 2020Peer-reviewedGenetic & Genomic Medicine