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Population Research

Most human disease results from a combination of inherited genetic variations and environmental factors (such as lifestyle, social conditions, chemical exposures, and infections). Collecting and analyzing human genetic data in population-based research helps us to know more about the causes and effects of diseases for large groups of people.  It can also help us to understand why individuals vary in their susceptibility to disease. This knowledge can help find those groups at highest risk of disease in the larger U.S. population, as well as to refine the public health response to disease and public health emergencies.

Thanks to the genome-based tools now available to public health researchers, we can study how and where disease occurs in populations and families using biological markers (e.g., genes) that can help identify exposures, susceptibilities, and effects. The basic science of public health genomics is "human genome epidemiology," the set of methods for collecting, analyzing, and synthesizing data on the distribution of gene variants, gene-disease associations, and gene-environment and gene-gene interactions. Epidemiologic studies are the basis for estimating the absolute, relative, and attributable risks that gauge the effects of genomic factors on the health of individuals and populations.


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