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

doi:10.1038/nmeth.1516

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

Hubrecht Institute

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgave › Artikel › Wetenschappelijk › peer review

59 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
Tijdschrift	Nature Methods
Volume	7
Nummer van het tijdschrift	11
DOI's	https://doi.org/10.1038/nmeth.1516
Status	Gepubliceerd - 2010

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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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AU - Cuppen, E.

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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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