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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Vydáno v:Sci Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2016
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Article
On-line přístup: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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