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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

2019-11-29 genetic and genomic medicine Title + abstract only
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Exome sequencing is now mainstream in clinical practice, however, identification of pathogenic Mendelian variants remains time consuming, partly because limited accuracy of current computational prediction methods leaves much manual classification. Here we introduce CAPICE, a new machine-learning based method for prioritizing pathogenic variants, including SNVs and short InDels, that outperforms best general (CADD, GAVIN) and consequence-type-specific (REVEL, ClinPred) computational prediction m...

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