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BioMed Central, Genome Medicine, 10(6), 2014

DOI: 10.1186/s13073-014-0083-5

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Using genetically isolated populations to understand the genomic basis of disease

Journal article published in 2014 by Eleftheria Zeggini ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.