Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. Issue 7 (20th May 2015)

• Record Type: Journal Article
• Authors: 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.; InSiGHT Group
• Is Part Of: Human mutation. Volume 36:Issue 7(2015:Jul.)
• Page Start: 712
• Page End: 719
• Publication Date: 2015-05-20
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22798
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22798-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>In silico</italic> 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. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj11pwmxdj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>