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Genome Biol. 2011 Sep 14;12(9):R86. doi: 10.1186/gb-2011-12-9-r86.

Mutation discovery in mice by whole exome sequencing.

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  • 1The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.

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.

PMID:
21917142
[PubMed - indexed for MEDLINE]
PMCID:
PMC3308049
Free PMC Article
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