Targeted RNA‐seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform deep‐sequencing and to identify the different and even rare mRN...

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Detalles Bibliográficos
Autores principales: Brandão, Rita D., Mensaert, Klaas, López‐Perolio, Irene, Tserpelis, Demis, Xenakis, Markos, Lattimore, Vanessa, Walker, Logan C., Kvist, Anders, Vega, Ana, Gutiérrez‐Enríquez, Sara, Díez, Orland, de la Hoya, Miguel, Spurdle, Amanda B., De Meyer, Tim, Blok, Marinus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Cancer Genetics and Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635756/
https://www.ncbi.nlm.nih.gov/pubmed/30623411
http://dx.doi.org/10.1002/ijc.32114

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635756/
https://www.ncbi.nlm.nih.gov/pubmed/30623411
http://dx.doi.org/10.1002/ijc.32114

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