Hellenic Isolated Cohorts (HELIC)

Genome-wide association studies of complex traits have been successful in identifying common variant associations, but a substantial heritability gap remains. The field of complex trait genetics is shifting towards the study of low-frequency and rare variants, which are 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.

With our collaborators at Harokopio University in Athens, we are investigating the effects of such genetic variants in two isolated populations in Greece. The HELIC cohort collection, including biological samples and extensive phenotype data, started in 2009. We aim to investigate the association of low-frequency and rare variants with complex traits of medical relevance employing whole-genome sequencing approaches.