Orthogonal NGS for High Throughput Clinical Diagnostics

Next generation sequencing is a transformative technology for discovering and diagnosing genetic disorders. However, high-throughput sequencing remains error-prone, necessitating variant confirmation in order to meet the exacting demands of clinical diagnostic sequencing. To address this, we devised...

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Dades bibliogràfiques
Publicat a:Sci Rep
Autors principals: Chennagiri, Niru, White, Eric J., Frieden, Alexander, Lopez, Edgardo, Lieber, Daniel S., Nikiforov, Anastasia, Ross, Tristen, Batorsky, Rebecca, Hansen, Sherry, Lip, Va, Luquette, Lovelace J., Mauceli, Evan, Margulies, David, Milos, Patrice M., Napolitano, Nichole, Nizzari, Marcia M., Yu, Timothy, Thompson, John F.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4836299/
https://ncbi.nlm.nih.gov/pubmed/27090146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep24650
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