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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403447/ https://www.ncbi.nlm.nih.gov/pubmed/30891420 http://dx.doi.org/10.1016/j.ymgmr.2019.100464 |
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