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Nat Methods. 2010 Nov;7(11):913-5. doi: 10.1038/nmeth.1516. Epub 2010 Oct 17.

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.

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  • 1Hubrecht Institute, Developmental Biology and Stem Cell Research, Royal Netherlands Academy of Arts and Sciences and the University Medical Center Utrecht, Utrecht, The Netherlands.

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.

PMID:
20953175
[PubMed - indexed for MEDLINE]
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