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

• Asıl Yazarlar: Genevieve M Gould (Yazar), Peter V Grauman (Yazar), Mark R Theilmann (Yazar), Lindsay Spurka (Yazar), Irving E Wang (Yazar), Laura M Melroy (Yazar), Robert G Chin (Yazar), Dustin H Hite (Yazar), Clement S Chu (Yazar), Jared R Maguire (Yazar), Gregory J Hogan (Yazar), Dale Muzzey (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-09-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...