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

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-d...

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Bibliographic Details
Main Authors: Arianna Nicolussi, Francesca Belardinilli, Valentina Silvestri, Yasaman Mahdavian, Virginia Valentini, Sonia D’Inzeo, Marialaura Petroni, Massimo Zani, Sergio Ferraro, Stefano Di Giulio, Francesca Fabretti, Beatrice Fratini, Angela Gradilone, Laura Ottini, Giuseppe Giannini, Anna Coppa, Carlo Capalbo
Format: Article
Language:English
Published: PeerJ Inc. 2019-11-01
Series:PeerJ
Subjects:
BRCA1 LGRs
NGS
Deep coverage
Analytical validation
DQ analysis
MLPA
Online Access:https://peerj.com/articles/7972.pdf

Internet

https://peerj.com/articles/7972.pdf

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