Ontology highlight
ABSTRACT:
SUBMITTER: Wangler MF
PROVIDER: S-EPMC5586389 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Wangler Michael F MF Yamamoto Shinya S Chao Hsiao-Tuan HT Posey Jennifer E JE Westerfield Monte M Postlethwait John J Hieter Philip P Boycott Kym M KM Campeau Philippe M PM Bellen Hugo J HJ
Genetics 20170901 1
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic hybridization methods. These efforts are limited by a lack of knowledge regarding gene function, and an inability to predict the impact of genetic variation on the encoded protein function. Diagnostic challenges posed by undiagnosed diseases have solutions in model organism research, which provides a wealth of detailed biological informatio ...[more]