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From genetic epidemiology to exposome and systems epidemiology

Probst-Hensch, Nicole. (2020) From genetic epidemiology to exposome and systems epidemiology. In: Applied genomics and public health: translational and applied genomics, 2. Cambridge, Massachusetts, pp. 11-35.

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Official URL: https://edoc.unibas.ch/78330/

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Abstract

Genetic epidemiology investigates the contribution of germline gene variants to disease etiology. The genetic architecture of many diseases exhibiting Mendelian inheritance patterns was decoded through family-based studies and subsequent functional cloning. Tests for high-penetrance gene variants have clinical utility for individuals, such as in preimplantation, prenatal, or postnatal diagnostics, and in preventive cascade screening of biological relatives. Genome-wide association studies thousands of identified variants associated with complex traits. Yet, the causal variants explaining the replicated statistical associations and their functional effects have rarely been deciphered. A missing heritability gap remains. Genetic testing for complex phenotypes has utility for research and public health rather than individuals. Genetics integrated with other biomarkers and information in the context of large citizen cohorts enables systems epidemiology approaches. The utility of genomic biomarkers is in studying molecular pathways mediating effects of the exposome on the phenome in order to improve causal understanding of modifiable risk factors. The goal is to strengthen the primary prevention of noncommunicable diseases.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
UniBasel Contributors:Probst Hensch, Nicole
Item Type:Book Section, refereed
Book Section Subtype:Further Contribution in a Book
Publisher:Academic Press
ISBN:978-0-12-813695-9
Note:Publication type according to Uni Basel Research Database: Book item
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Last Modified:01 Feb 2021 09:23
Deposited On:01 Feb 2021 09:23

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