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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Detalhes bibliográficos
Publicado no:Int J Cancer
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Cancer Genetics and Epigenetics
Acesso em linha: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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