Using genetically isolated populations to understand the genomic basis of disease

Genome Med. 2014 Oct 17;6(10):83. doi: 10.1186/s13073-014-0083-5. eCollection 2014.

Abstract

Rare variation has a key role in the genetic etiology of complex traits. Genetically isolated populations have been established as a powerful resource for novel locus discovery and they combine advantageous characteristics that can be leveraged to expedite discovery. Genome-wide genotyping approaches coupled with sequencing efforts have transformed the landscape of disease genomics and highlight the potentially significant contribution of studies in founder populations.