Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data

BACKGROUND: Genetic testing for BRCA1/2 germline mutations in hereditary breast/ovarian cancer patients requires screening for single nucleotide variants, small insertions/deletions and large genomic rearrangements (LGRs). These studies have long been run by Sanger sequencing and multiplex ligation-...

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Publicat a:PeerJ
Autors principals: Nicolussi, Arianna, Belardinilli, Francesca, Silvestri, Valentina, Mahdavian, Yasaman, Valentini, Virginia, D’Inzeo, Sonia, Petroni, Marialaura, Zani, Massimo, Ferraro, Sergio, Di Giulio, Stefano, Fabretti, Francesca, Fratini, Beatrice, Gradilone, Angela, Ottini, Laura, Giannini, Giuseppe, Coppa, Anna, Capalbo, Carlo
Format: Artigo
Idioma:Inglês
Publicat: PeerJ Inc. 2019
Matèries:
Bioinformatics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6859874/
https://ncbi.nlm.nih.gov/pubmed/31741787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.7972
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