Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

@article{Nijman2010MutationDB,
  title={Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples},
  author={Isaac J. Nijman and Michal Mokry and Ruben van Boxtel and Pim W. Toonen and Ewart de Bruijn and Edwin Cuppen},
  journal={Nature Methods},
  year={2010},
  volume={7},
  pages={913-915}
}
Targeted genomic enrichment followed by next-generation DNA sequencing has dramatically increased efficiency of mutation-discovery efforts. We describe a protocol for genomic enrichment of pooled barcoded samples in a single assay that increases experimental flexibility and efficiency. We screened 770 genes (1.4 megabases) in thirty N-ethyl-N-nitrosourea (ENU)-mutagenized rats and identified known variants at >96% sensitivity as well as new mutations at a false positive rate < 1 in 8 megabases. 

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