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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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: | https://repository.cshl.edu/id/eprint/27117 |
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