Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene - Gould, Genevieve M; Grauman, Peter V; Theilmann, Mark R; Spurka, Lindsay; Wang, Irving E; Melroy, Laura M; Chin, Robert G; Hite, Dustin H; Chu, Clement S; Maguire, Jared R; Hogan, Gregory J; Muzzey, Dale (bioRxiv, 2018)
Keywords: Cancer screening; DNA probes; Exons; Genomics; Genotypes; Homology; Medical screening; Mismatch repair; Next-generation sequencing; Polymerase chain reaction; hereditary cancer screening; Lynch syndrome; reflex testing