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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Bibliographic Details
Published in:Sci Rep
Main Authors: 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
Language:Inglês
Published: Nature Publishing Group 2016
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Online Access: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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