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Vol. 9, No. 1, 2006
Issue release date: February 2006

PopGen: Population-Based Recruitment of Patients and Controls for the Analysis of Complex Genotype-Phenotype Relationships

Krawczak M. · Nikolaus S. · von Eberstein H. · Croucher P.J.P. · El Mokhtari N.E. · Schreiber S.
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Abstract

Objective: Patient samples used for mapping complex human disease genes are unlikely to be representative of the phenotype spectrum of the respective population as a whole. On the other hand, most ongoing prospective studies are probably too small for evaluating polygenic disease markers. Design: Precise estimates of population-specific genotypic risks can be obtained efficiently through the complete ascertainment of patients in a geographically confined area. The PopGen project uses the most northern part of Germany as a target region for such a pursuit. Results: PopGen currently pursues recruitment, sampling and processing activities in close collaboration with a multitude of clinical partners, covering cardiovascular, neuropsychiatric and environmental diseases. Conclusion: PopGen has successfully established itself as a large-scale genetic epidemiological project of international recognition.



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