Publications by authors named "Leslie R Zwerwer"

1 Publications

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

Genome Med 2020 08 24;12(1):75. Epub 2020 Aug 24.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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 the best general (CADD, GAVIN) and consequence-type-specific (REVEL, ClinPred) computational prediction methods, for both rare and ultra-rare variants. CAPICE is easily added to diagnostic pipelines as pre-computed score file or command-line software, or using online MOLGENIS web service with API. Download CAPICE for free and open-source (LGPLv3) at https://github.com/molgenis/capice .
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http://dx.doi.org/10.1186/s13073-020-00775-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446154PMC
August 2020