Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing

BACKGROUND: Healthcare providers increasingly use information about pathogenic variants in cancer predisposition genes, including sequence variants and large rearrangements (LRs), in medical management decisions. While sequence variant detection is typically robust, LRs can be difficult to detect an...

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Detalles Bibliográficos
Autores principales: Mancini-DiNardo, Debora, Judkins, Thaddeus, Kidd, John, Bernhisel, Ryan, Daniels, Courtney, Brown, Krystal, Meek, Kirsten, Craft, Jonathan, Holladay, Jayson, Morris, Brian, Roa, Benjamin B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798444/
https://www.ncbi.nlm.nih.gov/pubmed/31623605
http://dx.doi.org/10.1186/s12920-019-0587-3

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