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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2019
Materias:
Bioinformatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859874/
https://www.ncbi.nlm.nih.gov/pubmed/31741787
http://dx.doi.org/10.7717/peerj.7972

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