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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Zapisane w:
Opis bibliograficzny
Wydane w:Mol Genet Metab Rep
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: Elsevier 2019
Hasła przedmiotowe:
Research Paper
Dostęp online: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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