Research summary
The Human Genome Project's draft sequence was produced by an international consortium and made freely available, with initial analyses of human development, physiology, medicine, and evolution drawn from the assembly [1]. The Wellcome Trust Case Control Consortium genome-wide association study (GWAS) examined approximately 2,000 cases each for seven diseases (bipolar disorder, coronary artery disease, Crohn's disease, hypertension, rheumatoid arthritis, type 1 diabetes, type 2 diabetes) against a shared 3,000 controls using the Affymetrix 500K array, identifying 24 independent association signals at P < 5e-7: one in bipolar disorder, one in coronary artery disease, nine in Crohn's, three in rheumatoid arthritis, seven in type 1 diabetes, and three in type 2 diabetes [2]. The International HapMap Project was described in its first phase, with the design to genotype one million or more sequence variants in samples of African, Asian, and European ancestry to map common patterns of variation and aid disease-gene discovery and drug-target selection [3]. A joint GWAS for coronary artery disease combined the WTCCC study (1,926 cases, 2,938 controls) with the German MI Family Study (875 cases, 1,644 controls) for replication; the analysis identified chromosomal loci strongly associated with coronary artery disease, with single-nucleotide-polymorphism replication in the German cohort confirming several candidates [4]. These four papers stand as foundational outputs spanning the human-reference-sequence baseline, the multi-disease GWAS, the HapMap variation map, and the targeted coronary-artery-disease GWAS that together established the empirical framework for population-scale genetic-association work.
Recent publications
- Initial sequencing and analysis of the human genomeDOI
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsDOI
- The International HapMap ProjectDOI
- Discovery and refinement of loci associated with lipid levelsDOI
- Integrating common and rare genetic variation in diverse human populationsDOI
- Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosisDOI
- Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's diseaseDOI
- Genomewide Association Analysis of Coronary Artery DiseaseDOI
- Large-scale association analysis identifies new risk loci for coronary artery diseaseDOI
- Convergent adaptation of human lactase persistence in Africa and EuropeDOI
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External profiles
- ORCID: https://orcid.org/0000-0001-9251-070X
- OpenAlex: openalex.org
Profile compiled from public sources (Researchmap, OpenAlex, University of Tsukuba faculty directory). Last refreshed 2026-05. Report incorrect information.