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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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6162901/
https://ncbi.nlm.nih.gov/pubmed/30268105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0691-9
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