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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Dettagli Bibliografici
Pubblicato in:Int J Cancer
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons, Inc. 2019
Soggetti:
Cancer Genetics and Epigenetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6635756/
https://ncbi.nlm.nih.gov/pubmed/30623411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ijc.32114
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