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

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 sequencing (NGS) o...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162901/
https://www.ncbi.nlm.nih.gov/pubmed/30268105
http://dx.doi.org/10.1186/s12881-018-0691-9

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