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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2019
Ábhair:
Research Paper
Rochtain Ar Líne: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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