from Part III - Mapping DNA Molecules at the Single-Molecule Level
Published online by Cambridge University Press: 05 May 2022
The term “biomarker,” a portmanteau of “biological marker,” has been defined by Hulka and colleagues (Hulka, 1990) as “cellular, biochemical or molecular alterations that are measurable in biological media such as human tissues, cells, or fluids.” In 1998, the definition was broadened as the National Institutes of Health Biomarkers Definitions Working Group defined a biomarker as “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention” (Biomarkers Definition Working Group, 2001). In practice, the discovery and quantification of biomarkers require tools and technologies that help us predict and diagnose diseases; understand the cause, progression, and regression of diseases; and understand the outcomes of disease treatments. Different types of biomarkers have been used by generations of epidemiologists, physicians, and scientists to study all sorts of diseases. The importance of biomarkers in the diagnosis and management of cardiovascular diseases, infections, immunological and genetic disorders, and cancers is well known (Hulka, 1990; Perera and Weinstein, 2000).
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