Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

I.J. Nijman, M. Mokry, R. van Boxtel, P.W. Toonen, E. de Bruijn, E. Cuppen

Research output: Contribution to journal/periodicalArticleScientificpeer-review

57 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)913-915
JournalNature Methods
Volume7
Issue number11
DOIs
Publication statusPublished - 2010

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