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

• Hoofdauteurs: Genevieve M Gould (Auteur), Peter V Grauman (Auteur), Mark R Theilmann (Auteur), Lindsay Spurka (Auteur), Irving E Wang (Auteur), Laura M Melroy (Auteur), Robert G Chin (Auteur), Dustin H Hite (Auteur), Clement S Chu (Auteur), Jared R Maguire (Auteur), Gregory J Hogan (Auteur), Dale Muzzey (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-09-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...