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Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Nijman, I.J. and Mokry, M. and Boxtel van, R. and Toonen, P.W. and Bruijn de, E. and Cuppen, E. (2010) Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nature Methods, 7, 913-5. ISSN 1548-7091.

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Official URL: http://dx.doi.org/10.1038/nmeth.1516

Abstract

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.

Item Type:Article
Institutes:Hubrecht Instituut
ID Code:9526
Deposited On:11 Feb 2011 01:00
Last Modified:07 Sep 2011 17:01

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