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

• Main Authors: Genevieve M Gould (Author), Peter V Grauman (Author), Mark R Theilmann (Author), Lindsay Spurka (Author), Irving E Wang (Author), Laura M Melroy (Author), Robert G Chin (Author), Dustin H Hite (Author), Clement S Chu (Author), Jared R Maguire (Author), Gregory J Hogan (Author), Dale Muzzey (Author)
• Format: Book
• Published: BMC, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hereditary cancer screening (HCS) for germline variants in the 3' exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequences of PMS2 and PMS2CL are so similar that next-generation seque...