Objectif "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; the Pomak villages are a set of religiously isolated mountainous villages in the North of Greece and Korcula is an isolated Adriatic Sea island, all with high levels of cardiometabolic and psychiatric disease. 1,000 to 1,500 individuals from each of these populations will be typed on genome-wide chips before the start of this project. Sequencing is very efficient in isolated populations, because variants found in a few samples will be shared by others, supporting accurate imputation. We will whole-genome sequence 200 individuals from each of these populations and will access all variation down to 1% frequency and ~40% of variants with frequency 0.1% to 1% for the first time. We will impute identified variants into the full set of genome-wide typed samples, and will test for association with the collected traits, initially focusing on cardiometabolic phenotypes. We will validate associations by direct genotyping in the discovery set and will seek replication in further isolated and outbred populations. Using cutting-edge high-throughput sequencing technologies and novel analytical tools, this work is uniquely poised to usher in the new era of next-generation genetic studies and identify robust associations with disease-related complex traits." Programme(s) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Thème(s) ERC-SG-LS2 - ERC Starting Grant - Genetics,Genomics,Bioinformatics and Systems Biology Appel à propositions ERC-2011-StG_20101109 Voir d’autres projets de cet appel Régime de financement ERC-SG - ERC Starting Grant Institution d’accueil GENOME RESEARCH LIMITED Contribution de l’UE € 1 477 931,60 Adresse WELLCOME SANGER INSTITUTE WELLCOME GENOME CAMPUS HINXTON CB10 1SA SAFFRON WALDEN Royaume-Uni Voir sur la carte Région East of England East Anglia Cambridgeshire CC Type d’activité Research Organisations Contact administratif David Davison (Mr.) Chercheur principal Eleftheria Zeggini (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée Bénéficiaires (1) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire GENOME RESEARCH LIMITED Royaume-Uni Contribution de l’UE € 1 477 931,60 Adresse WELLCOME SANGER INSTITUTE WELLCOME GENOME CAMPUS HINXTON CB10 1SA SAFFRON WALDEN Voir sur la carte Région East of England East Anglia Cambridgeshire CC Type d’activité Research Organisations Contact administratif David Davison (Mr.) Chercheur principal Eleftheria Zeggini (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée