Mutation discovery in mice by whole exome sequencing

被引：85

作者：

Fairfield, Heather ^{[1
]}

Gilbert, Griffith J. ^{[1
]}

Barter, Mary ^{[1
]}

Corrigan, Rebecca R. ^{[2
]}

Curtain, Michelle ^{[1
]}

Ding, Yueming ^{[3
]}

D'Ascenzo, Mark ^{[4
]}

Gerhardt, Daniel J. ^{[4
]}

He, Chao ^{[5
]}

Huang, Wenhui ^{[6
]}

Richmond, Todd ^{[4
]}

Rowe, Lucy ^{[1
]}

Probst, Frank J. ^{[2
]}

Bergstrom, David E. ^{[1
]}

Murray, Stephen A. ^{[1
]}

Bult, Carol ^{[1
]}

Richardson, Joel ^{[1
]}

Kile, Benjamin T. ^{[7
,8
]}

Gut, Ivo ^{[9
]}

Hager, Jorg ^{[9
]}

Sigurdsson, Snaevar ^{[10
]}

Mauceli, Evan ^{[10
]}

Di Palma, Federica ^{[10
]}

Lindblad-Toh, Kerstin ^{[10
]}

Cunningham, Michael L. ^{[11
]}

Cox, Timothy C. ^{[11
]}

Justice, Monica J. ^{[2
]}

Spector, Mona S. ^{[5
]}

Lowe, Scott W. ^{[5
]}

Albert, Thomas ^{[4
]}

Donahue, Leah Rae ^{[1
]}

Jeddeloh, Jeffrey ^{[4
]}

Shendure, Jay ^{[11
]}

Reinholdt, Laura G. ^{[1
]}

机构：

[1] Jackson Lab, Bar Harbor, ME 04609 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Cold Spring Harbor Lab, Cold Spring Harbor, NY 11724 USA

[4] Roche NimbleGen Inc, Madison, WI 53719 USA

[5] Natl Ctr Genome Anal CNAG, Barcelona 408028, Spain

[6] Walter & Eliza Hall Inst Med Res, Parkville, Vic 3052, Australia

[7] Univ Washington, Dept Pediat, Div Craniofacial Med, Seattle, WA 98105 USA

[8] Seattle Childrens Craniofacial Ctr, Seattle, WA 98105 USA

[9] Regeneron Pharmaceut Inc, Tarrytown, NY 10591 USA

[10] 5 Cambridge Ctr, Broad Inst Massachusetts Inst Technol & Harvard, Cambridge, MA 02142 USA

[11] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

来源：

GENOME BIOLOGY | 2011年 / 12卷 / 09期

关键词：

BALANCER CHROMOSOME; HEARING-LOSS; MOUSE;

D O I：

10.1186/gb-2011-12-9-r86

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

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页数：12

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