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- Title
Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.
- Authors
Nijman, Isaäc J.; Mokry, Michal; van Boxtel, Ruben; Toonen, Pim; de Bruijn, Ewart; Cuppen, Edwin
- 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.
- Subjects
GENETIC mutation; NUCLEOTIDE sequence; GENES; NITROSOUREAS; GENETIC testing
- Publication
Nature Methods, 2010, Vol 7, Issue 11, p913
- ISSN
1548-7091
- Publication type
Article
- DOI
10.1038/nmeth.1516