Article
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.
Breast cancer research and treatment - 1 Aug 2014
Pruss Dmitry, Morris Brian, Hughes Elisha, Eggington Julie M, Esterling Lisa, Robinson Brandon S, van Kan Aric, Fernandes Priscilla H, Roa Benjamin B, Gutin Alexander, Wenstrup Richard J, Bowles Karla R
Abstract excerpt
BRCA1 and BRCA2 sequencing analysis detects variants of uncertain clinical significance in approximately 2 % of patients undergoing clinical diagnostic testing in our laboratory. The reclassification of these variants into either a pathogenic or benign clinical interpretation is critical for improved patient management. We developed a statistical variant reclassification tool based on the premise that probands...
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