Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Isaäc J. Nijman, Michal Mokry, Ruben Van Boxtel, Pim Toonen, Ewart De Bruijn, Edwin Cuppen

Research output: Contribution to journalArticlepeer-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
Number of pages3
JournalNature Methods
Volume7
Issue number11
DOIs
Publication statusPublished - Nov 2010
Externally publishedYes

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