SEPI · Sequencing population isolates to find complex trait loci

Genome-wide association studies of complex traits have identified many common variant associations, but a substantial heritability gap remains. The field is shifting towards the study of low frequency and rare variants, hypothesised to have larger effects. The study of these variants can be empowered by focusing on isolated populations, in which rare variants may have increased in frequency and linkage disequilibrium tends to be extended. This work will focus on three isolated populations, each with information on a wide array of anthropometric, cardiometabolic, biochemical, haematological and diet-related traits. Anogia is a mountainous village on the island of Crete with high levels of longevity