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Old 11-04-2010, 01:55 PM   #1
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Default Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.

Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E.

Nat Methods. 2010 Nov;7(11):913-5

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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