Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples - PubMed (original) (raw)

doi: 10.1038/nmeth.1516. Epub 2010 Oct 17.

Affiliations

• PMID: 20953175
• DOI: 10.1038/nmeth.1516

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Isaäc J Nijman et al. Nat Methods. 2010 Nov.

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.

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