Article
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Human mutation - 1 Jul 2015
van der Velde K Joeri, Kuiper Joël, Thompson Bryony A, Plazzer John-Paul, van Valkenhoef Gert, de Haan Mark, Jongbloed Jan D H, Wijmenga Cisca, de Koning Tom J, Abbott Kristin M, Sinke Richard, Spurdle Amanda B, Macrae Finlay, Genuardi Maurizio, Sijmons Rolf H, Swertz Morris A
Abstract excerpt
Next-generation sequencing in clinical diagnostics is providing valuable genomic variant data, which can be used to support healthcare decisions. In silico tools to predict pathogenicity are crucial to assess such variants and we have evaluated a new tool, Combined Annotation Dependent Depletion (CADD), and its classification of gene variants in Lynch syndrome by using a set of 2,210 DNA mismatch repair gene...
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