Orthogonal NGS for High Throughput Clinical Diagnostics.

@article{Chennagiri2016OrthogonalNF,
  title={Orthogonal NGS for High Throughput Clinical Diagnostics.},
  author={Niru Chennagiri and Eric J White and Alexander Frieden and Edgardo Lopez and Daniel S. Lieber and Anastasia Nikiforov and Tristen Ross and Rebecca E Batorsky and Sherry Hansen and Va Lip and Lovelace J. Luquette and Evan Mauceli and David M. Margulies and Patrice M. Milos and Nichole Napolitano and Marcia M. Nizzari and Timothy W. Yu and J. J. Thompson},
  journal={Scientific reports},
  year={2016},
  volume={6},
  pages={24650}
}
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 an orthogonal, dual platform approach employing complementary target capture and sequencing chemistries to improve speed and accuracy of variant calls at a genomic scale. We combined DNA selection… CONTINUE READING