Title |
Mutation discovery in mice by whole exome sequencing
|
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Published in |
Genome Biology, September 2011
|
DOI | 10.1186/gb-2011-12-9-r86 |
Pubmed ID | |
Authors |
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, Carol Bult, Joel Richardson, Benjamin T Kile, Ivo Gut, Jorg Hager, Snaevar Sigurdsson, Evan Mauceli, Federica Di Palma, Kerstin Lindblad-Toh, Michael L Cunningham, Timothy C Cox, Monica J Justice, Mona S Spector, Scott W Lowe, Thomas Albert, Leah Rae Donahue, Jeffrey Jeddeloh, Jay Shendure, Laura G Reinholdt |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 7 | 4% |
Sweden | 2 | 1% |
Spain | 2 | 1% |
Austria | 1 | <1% |
India | 1 | <1% |
Belgium | 1 | <1% |
Russia | 1 | <1% |
Australia | 1 | <1% |
Japan | 1 | <1% |
Other | 3 | 2% |
Unknown | 152 | 88% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 58 | 34% |
Student > Ph. D. Student | 35 | 20% |
Professor > Associate Professor | 13 | 8% |
Student > Bachelor | 10 | 6% |
Student > Master | 10 | 6% |
Other | 31 | 18% |
Unknown | 15 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 78 | 45% |
Biochemistry, Genetics and Molecular Biology | 37 | 22% |
Medicine and Dentistry | 20 | 12% |
Computer Science | 5 | 3% |
Veterinary Science and Veterinary Medicine | 2 | 1% |
Other | 12 | 7% |
Unknown | 18 | 10% |