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

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

60 Citaten (Scopus)

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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.

Originele taal-2	Engels
Pagina's (van-tot)	913-915
Aantal pagina's	3
Tijdschrift	Nature Methods
Volume	7
Nummer van het tijdschrift	11
DOI's	https://doi.org/10.1038/nmeth.1516
Status	Gepubliceerd - nov. 2010
Extern gepubliceerd	Ja

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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 - Nijman, Isaäc J.

AU - Mokry, Michal

AU - Van Boxtel, Ruben

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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N2 - 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.

AB - 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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Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

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