Mutation discovery in mice by whole exome sequencing

Fairfield, H., Gilbert, G. J., Barter, M., Corrigan, R. R., Curtain, M., Ding, Y. M., D'Ascenzo, M., Gerhardt, D. J., He, C., Huang, W. H., Richmond, T., Rowe, L., Probst, F. J., Bergstrom, D. E., Murray, S. A., Bult, C., Richardson, J., Kile, B. T., Gut, I., Hager, J., Sigurdsson, S., Mauceli, E., Di Palma, F., Lindblad-Toh, K., Cunningham, M. L., Cox, T. C., Justice, M. J., Spector, M. S., Lowe, S. W., Albert, T., Donahue, L. R., Jeddeloh, J., Shendure, J., Reinholdt, L. G. (2011) Mutation discovery in mice by whole exome sequencing. Genome Biology, 12 (9). ISSN 1474-7596

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URL: http://www.ncbi.nlm.nih.gov/pubmed/21917142
DOI: 10.1186/gb-2011-12-9-r86

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.

Item Type: Paper
Subjects: Investigative techniques and equipment
organism description > animal
Investigative techniques and equipment > assays
organism description > animal > mammal > rodent > mouse
Investigative techniques and equipment > whole exome sequencing
Investigative techniques and equipment > assays > whole exome sequencing
CSHL Authors:
Communities: CSHL Cancer Center Shared Resources > Animal Services
CSHL labs > Lowe lab
CSHL Cancer Center Program > Cancer Genetics
Depositing User: Matt Covey
Date: 2011
Date Deposited: 07 Feb 2013 16:50
Last Modified: 14 Oct 2015 15:52
PMCID: PMC3308049
Related URLs:
URI: http://repository.cshl.edu/id/eprint/27117

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