Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to mee...

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發表在:Mol Genet Metab Rep
Main Authors: Hartman, Paige, Beckman, Kenneth, Silverstein, Kevin, Yohe, Sophia, Schomaker, Matthew, Henzler, Christine, Onsongo, Getiria, Lam, Ham Ching, Munro, Sarah, Daniel, Jerry, Billstein, Bradley, Deshpande, Archana, Hauge, Adam, Mroz, Pawel, Lee, Whiwon, Holle, Jennifer, Wiens, Katie, Karnuth, Kylene, Kemmer, Teresa, Leary, Michaela, Michel, Stephen, Pohlman, Laurie, Thayanithy, Venugopal, Nelson, Andrew, Bower, Matthew, Thyagarajan, Bharat
格式: Artigo
語言:Inglês
出版: Elsevier 2019
主題:
Research Paper
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6403447/
https://ncbi.nlm.nih.gov/pubmed/30891420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100464
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