Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E.
Nat Methods. 2010 Nov;7(11):913-5
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.
pubmed link
Nijman IJ, Mokry M, van Boxtel R, Toonen P, de Bruijn E, Cuppen E.
Nat Methods. 2010 Nov;7(11):913-5
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.
pubmed link