Article
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Genome research - 1 Jul 2015
Fairfield Heather, Srivastava Anuj, Ananda Guruprasad, Liu Rangjiao, Kircher Martin, Lakshminarayana Anuradha, Harris Belinda S, Karst Son Yong, Dionne Louise A, Kane Coleen C, Curtain Michelle, Berry Melissa L, Ward-Bailey Patricia F, Greenstein Ian, Byers Candice, Czechanski Anne, Sharp Jocelyn, Palmer Kristina, Gudis Polyxeni, Martin Whitney, Tadenev Abby, Bogdanik Laurent, Pratt C Herbert, Chang Bo, Schroeder David G, Cox Gregory A, Cliften Paul, Milbrandt Jeffrey, Murray Stephen, Burgess Robert, Bergstrom David E, Donahue Leah Rae, Hamamy Hanan, Masri Amira, Santoni Federico A, Makrythanasis Periklis, Antonarakis Stylianos E, Shendure Jay, Reinholdt Laura G
Abstract excerpt
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...
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