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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836299/
https://www.ncbi.nlm.nih.gov/pubmed/27090146
http://dx.doi.org/10.1038/srep24650