@article{Fairfield01072015,
author = {Fairfield, Heather and Srivastava, Anuj and Ananda, Guruprasad and Liu, Rangjiao and Kircher, Martin and Lakshminarayana, Anuradha and Harris, Belinda S. and Karst, Son Yong and Dionne, Louise A. and Kane, Coleen C. and Curtain, Michelle and Berry, Melissa L. and Ward-Bailey, Patricia F. and Greenstein, Ian and Byers, Candice and Czechanski, Anne and Sharp, Jocelyn and Palmer, Kristina and Gudis, Polyxeni and Martin, Whitney and Tadenev, Abby and Bogdanik, Laurent and Pratt, C. Herbert and Chang, Bo and Schroeder, David G. and Cox, Gregory A. and Cliften, Paul and Milbrandt, Jeffrey and Murray, Stephen and Burgess, Robert and Bergstrom, David E. and Donahue, Leah Rae and Hamamy, Hanan and Masri, Amira and Santoni, Federico A. and Makrythanasis, Periklis and Antonarakis, Stylianos E. and Shendure, Jay and Reinholdt, Laura G.}, 
title = {Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders},
volume = {25}, 
number = {7}, 
pages = {948-957}, 
year = {2015}, 
doi = {10.1101/gr.186882.114}, 
abstract ={Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad range of clinically relevant phenotypes. To analyze the resulting data, we developed an analytics pipeline that is optimized for mouse exome data and a variation database that allows for reproducible, user-defined data mining as well as nomination of mutation candidates through knowledge-based integration of sample and variant data. Using these new tools, putative pathogenic mutations were identified for 91 (53%) of the strains in our study. Despite the increased power offered by potentially unlimited pedigrees and controlled breeding, about half of our exome cases remained unsolved. Using a combination of manual analyses of exome alignments and whole-genome sequencing, we provide evidence that a large fraction of unsolved exome cases have underlying structural mutations. This result directly informs efforts to investigate the similar proportion of apparently Mendelian human phenotypes that are recalcitrant to exome sequencing.}, 
URL = {http://genome.cshlp.org/content/25/7/948.abstract}, 
eprint = {http://genome.cshlp.org/content/25/7/948.full.pdf+html}, 
journal = {Genome Research} 
}