Final Report Summary - SEPI (Sequencing population isolates to find complex trait loci)
The Sequencing Population Isolates (SEPI) project has focused on two isolated populations from the Pomak villages in the North of Greece, and the Mylopotamos villages from Crete, Greece. DNA samples from approximately 3,200 individuals have been collected, along with detailed phenotype information on traits of primarily cardiometabolic relevance (anthropometric, cardiometabolic, biochemical, haematological and diet-related traits), e.g. Farmaki et al, Public Health Nutr 2017. All individuals have been genotyped genome-wide using all of the following approaches: genome-wide genotyping arrays, very low-depth (1x) whole genome sequencing), and high-depth (~20x) whole genome sequencing. Association analyses across the full allele frequency spectrum (common, low-frequency and rare) have generated insights into the genetic architecture of medically-relevant complex traits, e.g. Tachmazidou et al, Nature Communications 2013; Panoutsopoulou et al, Nature Communications 2014; Gilly et al, Human Molecular Genetics 2016; Tachmazidou et al, American Journal of Human Genetics 2017; Southam et al, Nature Communications 2017. Furthermore, population genetics analyses have improved our understanding of the unique characteristics of these populations, e.g. Xue et al, Nature Communications 2017. Finally, the sequence data generated here have given rise to new analytical challenges, which have been addressed through the development of novel statistical methods, e.g. Southam et al, Nature Communications 2017.