Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

TY - JOUR

T1 - Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

AU - Nijman, I.J.

AU - Mokry, M.

AU - van Boxtel, R.

AU - Toonen, P.W.

AU - de Bruijn, E.

AU - Cuppen, E.

N1 - Reporting year: 2010

PY - 2010

Y1 - 2010

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.

U2 - 10.1038/nmeth.1516

DO - 10.1038/nmeth.1516

M3 - Article

SN - 1548-7091

VL - 7

SP - 913

EP - 915

JO - Nature Methods

JF - Nature Methods

IS - 11

ER -