Related Experiment Video
Updated: Aug 11, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype
Michael Krawczak1, Susanna Nikolaus, Huberta von Eberstein
1Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel, Germany. krawczak@medinfo.uni-kiel.de
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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