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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Shranjeno v:
Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2019
Teme:
Research Article
Online dostop: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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