Mutation discovery in mice by whole exome sequencing

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; Frederica 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 Reinholt

doi:10.1186/gb-2011-12-9-r86

Mutation discovery in mice by whole exome sequencing

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 HagerSnaevar Sigurdsson, Evan Mauceli, Frederica 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 Reinholt

Research output: Contribution to journal › Article › Research › peer-review

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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 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.

Original language	English
Article number	12:R86
Number of pages	12
Journal	Genome Biology
Volume	12
DOIs	https://doi.org/10.1186/gb-2011-12-9-r86
Publication status	Published - 14 Sept 2011
Externally published	Yes

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Fairfield, H., Gilbert, G. J., Barter, M., Corrigan, R. R., Curtain, M., Ding, Y., D'Ascenzo, M., Gerhardt, D. J., He, C., Huang, W., Richmond, T., Rowe, L., Probst, F. J., Bergstrom, D. E., Murray, S. A., Bult, C., Richardson, J., Kile, B. T., Gut, I., ... Reinholt, L. G. (2011). Mutation discovery in mice by whole exome sequencing. Genome Biology, 12, Article 12:R86. https://doi.org/10.1186/gb-2011-12-9-r86

@article{7b0e07c2ec744ebe85d1682fc148db4b,

title = "Mutation discovery in mice by whole exome sequencing",

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 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.",

author = "Heather Fairfield and Gilbert, {Griffith J} and Mary Barter and Corrigan, {Rebecca R} and Michelle Curtain and Yueming Ding and Mark D'Ascenzo and Gerhardt, {Daniel J} and Chao He and Wenhui Huang and Todd Richmond and Lucy Rowe and Probst, {Frank J} and Bergstrom, {David E} and Murray, {Stephen A} and Carol Bult and Joel Richardson and Kile, {Benjamin T} and Ivo Gut and Jorg Hager and Snaevar Sigurdsson and Evan Mauceli and {Di Palma}, Frederica and Kerstin Lindblad-Toh and Cunningham, {Michael L} and Cox, {Timothy C} and Justice, {Monica J} and Spector, {Mona S} and Lowe, {Scott W} and Thomas Albert and Donahue, {Leah Rae} and Jeffrey Jeddeloh and Jay Shendure and Reinholt, {Laura G}",

year = "2011",

month = sep,

day = "14",

doi = "10.1186/gb-2011-12-9-r86",

language = "English",

volume = "12",

journal = "Genome Biology",

issn = "1474-760X",

publisher = "BioMed Central",

}

Fairfield, H, Gilbert, GJ, Barter, M, Corrigan, RR, Curtain, M, Ding, Y, D'Ascenzo, M, Gerhardt, DJ, He, C, Huang, W, 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 & Reinholt, LG 2011, 'Mutation discovery in mice by whole exome sequencing', Genome Biology, vol. 12, 12:R86. https://doi.org/10.1186/gb-2011-12-9-r86

TY - JOUR

T1 - Mutation discovery in mice by whole exome sequencing

AU - Fairfield, Heather

AU - Gilbert, Griffith J

AU - Barter, Mary

AU - Corrigan, Rebecca R

AU - Curtain, Michelle

AU - Ding, Yueming

AU - D'Ascenzo, Mark

AU - Gerhardt, Daniel J

AU - He, Chao

AU - Huang, Wenhui

AU - Richmond, Todd

AU - Rowe, Lucy

AU - Probst, Frank J

AU - Bergstrom, David E

AU - Murray, Stephen A

AU - Bult, Carol

AU - Richardson, Joel

AU - Kile, Benjamin T

AU - Gut, Ivo

AU - Hager, Jorg

AU - Sigurdsson, Snaevar

AU - Mauceli, Evan

AU - Di Palma, Frederica

AU - Lindblad-Toh, Kerstin

AU - Cunningham, Michael L

AU - Cox, Timothy C

AU - Justice, Monica J

AU - Spector, Mona S

AU - Lowe, Scott W

AU - Albert, Thomas

AU - Donahue, Leah Rae

AU - Jeddeloh, Jeffrey

AU - Shendure, Jay

AU - Reinholt, Laura G

PY - 2011/9/14

Y1 - 2011/9/14

N2 - 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 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.

AB - 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 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.

UR - http://genomebiology.com/content/pdf/gb-2011-12-9-r86.pdf

U2 - 10.1186/gb-2011-12-9-r86

DO - 10.1186/gb-2011-12-9-r86

M3 - Article

SN - 1474-760X

VL - 12

JO - Genome Biology

JF - Genome Biology

M1 - 12:R86

ER -

Mutation discovery in mice by whole exome sequencing

Abstract

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