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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

The objective of this study was to design and validate a next-generation sequencing assay (NGS) to detect BRCA1 and BRCA2 mutations. We developed an assay using random shearing of genomic DNA followed by RNA bait tile hybridization and NGS sequencing on both the Illumina MiSeq and Ion Personal Gene...

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Detalles Bibliográficos
Autores principales:	Strom, Charles M., Rivera, Steven, Elzinga, Christopher, Angeloni, Taraneh, Rosenthal, Sun Hee, Goos-Root, Dana, Siaw, Martin, Platt, Jamie, Braastadt, Cory, Cheng, Linda, Ross, David, Sun, Weimin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546651/ https://www.ncbi.nlm.nih.gov/pubmed/26295337 http://dx.doi.org/10.1371/journal.pone.0136419

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