Mutation discovery in mice by whole exome sequencing.
Ontology highlight
ABSTRACT:
SUBMITTER: Fairfield H
PROVIDER: S-EPMC3308049 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Publications
Mutation discovery in mice by whole exome sequencing.
Fairfield Heather H Gilbert Griffith J GJ Barter Mary M Corrigan Rebecca R RR Curtain Michelle M Ding Yueming Y D'Ascenzo Mark M Gerhardt Daniel J DJ He Chao C Huang Wenhui W Richmond Todd T Rowe Lucy L Probst Frank J FJ Bergstrom David E DE Murray Stephen A SA Bult Carol C Richardson Joel J Kile Benjamin T BT Gut Ivo I Hager Jorg J Sigurdsson Snaevar S Mauceli Evan E Di Palma Federica F Lindblad-Toh Kerstin K Cunningham Michael L ML Cox Timothy C TC Justice Monica J MJ Spector Mona S MS Lowe Scott W SW Albert Thomas T Donahue Leah Rae LR Jeddeloh Jeffrey J Shendure Jay J Reinholdt Laura G LG
Genome biology 20110914 9
We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain background. We found strong candidate mutations for the majority of mutant exomes sequenced, including new models of orofacial clefting, urogenital dysmorphology, kyphosis and a ...[more]
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