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BioMed Central, Genome Biology, 9(12), p. R86

DOI: 10.1186/gb-2011-12-9-r86

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Mutation discovery in mice by whole exome sequencing

Journal article published in 2011 by Heather Fairfield, Griffith J. Gilbert, Mary Barter, Rebecca R. Corrigan, Michelle Curtain, Yueming Ding, Mark D'Ascenzo, Daniel J. Gerhardt, Chao He, Wenhui Huang, Todd Richmond, Lucy Rowe, Frank J. Probst, David E. Bergstrom, Stephen A. Murray and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract 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 autoimmune hepatitis.