Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Mutation discovery in mice by whole exome sequencing. | Fairfield et al. Genome Biology 2011 12 R86 http 2011 12 9 R86 Genome Biology METHOD Open Access Mutation discovery in mice by whole exome sequencing Heather Fairfield1 Griffith J Gilbert1 Mary Barter1 Rebecca R Corrigan2 Michelle Curtain1 Yueming Ding3 h I -s z lz A 1 Z zm -r A4 Ph I z I I PCz r L rzJ f 4 I r I_I z 5 A hi II I_11 I IZ Z t6 I z zj zj D I r L m r zj4 I I I r f Dcm A rz 1 nl I D vr h. r t 2 Mark DAscenzo Daniel J Gerhardt Chao He vvenhui Huang TOdd Richmond Lucy Rowe Frank J Probst 1 11 1 7 8 8 David E Bergstrom Stephen A Murray Carol Bult Joel Richardson Benjamin T Kile Ivo Gut Jorg Hager c f l n zn f i r Cizii I rrl ccnn 9 Ỉ7Ì n l i 31 ir oli9 p li Dsỉlmsỉ9 kzciKc1 if i I i t H H113 H TmH9 i li hocil I p I I n n i n 1H 3 m10 Snaevar Siguidsson Evan Mauceli Fedeiica Di Palma Kerstin Lindblad Toil Michael L Cunningham Tim lỳhx p p riv10 í I 1 I I liichfo2 í I 1 c Qr hQf lThi 5 A I fNA 05 Thmm c Alhcirf4 I qoL Doc r lrhn 2 HI IO1 Timothy C Cox Monica J Justice Mona S Spector Scott W Lowe Thomas Albert Leah Rae Donahue Jeffrey Jeddeloh4 Jay Shendure10 and Laura G Reinholdt1 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. Background Phenotype-driven approaches in model organisms including spontaneous mutation discovery standard N-ethyl-N-nitrosourea ENU mutagenesis screens sensitized screens and modifier screens are established approaches in functional genomics for the discovery of novel genes and or novel gene functions. As over 90 of mouse genes have an ortholog in .
