Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Issue 7 (20th May 2015) - van der Velde, K. Joeri
Abstract In silico estimation of pathogenicity is becoming a necessity to interpret the amount of variants produced by current high‐throughput DNA sequencing. Here we benchmark the promising new CADD method against a gold standard set of curated mismatch repair gene variants classified by the InSiGHT consortium and investigate any discrepancies we find.