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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6798444/
https://ncbi.nlm.nih.gov/pubmed/31623605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0587-3
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