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Mutation discovery in mice by whole exome sequencing
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2011 (English)In: Genome Biology, ISSN 1465-6906, E-ISSN 1474-760X, Vol. 12, no 9, R86- p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 12, no 9, R86- p.
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Medical and Health Sciences
URN: urn:nbn:se:uu:diva-164609DOI: 10.1186/gb-2011-12-9-r86PubMedID: 21917142OAI: oai:DiVA.org:uu-164609DiVA: diva2:468653
Available from: 2011-12-21 Created: 2011-12-21 Last updated: 2013-03-15Bibliographically approved

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Lindblad-Toh, Kerstin
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Department of Medical Biochemistry and Microbiology
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