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Updated: Aug 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genomic medicine: bringing biomarkers to clinical medicine
David Seo1, Geoffrey S Ginsburg
1Center for Genomic Medicine, Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, NC 27710, USA.
Abstract:
An important by-product of sequencing the human genome has been the development of a novel 'toolbox' for biomarker discovery and development. Genomic medicine is an emerging discipline in the genome sciences that integrates these tools to interrogate genomic variation in well-defined populations in order to develop predictors of disease susceptibility, progression and drug response. Several important classes of biomarkers result from these analyses which, when translated to clinical medicine and drug development, will have an important impact on human health and disease. This review highlights both the opportunities and challenges in bringing biomarkers into clinical medicine.
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