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

doi:10.1038/nmeth.1516

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 journal › Article › peer-review

60 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 language	English
Pages (from-to)	913-915
Number of pages	3
Journal	Nature Methods
Volume	7
Issue number	11
DOIs	https://doi.org/10.1038/nmeth.1516
Publication status	Published - Nov 2010
Externally published	Yes

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10.1038/nmeth.1516

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title = "Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples",

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.",

author = "Nijman, {Isa{\"a}c J.} and Michal Mokry and {Van Boxtel}, Ruben and Pim Toonen and {De Bruijn}, Ewart and Edwin Cuppen",

note = "Funding Information: This work was supported by funds from the Cancer Genomics Centre, the award “Exploiting natural and induced genetic variation in the laboratory rat” to E.C. from the European Heads of Research Councils and European Science Foundation European Young Investigator Award scheme and the EU FP7 integrated project Euratrans.",

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AU - Mokry, Michal

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AU - Toonen, Pim

AU - De Bruijn, Ewart

AU - Cuppen, Edwin

N1 - Funding Information: This work was supported by funds from the Cancer Genomics Centre, the award “Exploiting natural and induced genetic variation in the laboratory rat” to E.C. from the European Heads of Research Councils and European Science Foundation European Young Investigator Award scheme and the EU FP7 integrated project Euratrans.

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Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

Abstract

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