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Mutation discovery in mice by whole exome sequencing


Fairfield, H; Gilbert, GJ; Barter, M; Corrigan, RR; Curtain, M; Ding, YM; D'Ascenzo, M; Gerhardt, DJ; He, C; Huang, WH; Richmond, T; Rowe, L; Probst, FJ; Bergstrom, DE; Murray, SA; Bult, C; Richardson, J; Kile, BT; Gut, I; Hager, J; Sigurdsson, S; Mauceli, E; Di Palma, F; Lindblad-Toh, K; Cunningham, ML; Cox, TC; Justice, MJ; Spector, MS; Lowe, SW; Albert, T; Donahue, LR; Jeddeloh, J; Shendure, J; Reinholdt, LG
2011
GENOME BIOLOGY
Journal Article
12
9
-
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.
BIOMED CENTRAL LTD
BALANCER CHROMOSOME; HEARING-LOSS; MOUSE
10.1186/gb-2011-12-9-r86
Refer to copyright notice on published article.

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Creation Date 2011-01-01 12:00:00