Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

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 unli

SUBMITTER: Fairfield H 

PROVIDER: S-EPMC4484392 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature