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IARC Sci Publ. 2011;(163):121-42.

Platforms for biomarker analysis using high-throughput approaches in genomics, transcriptomics, proteomics, metabolomics, and bioinformatics.

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National Institute for Environmental Health Sciences, Research Triangle Park, NC, USA.


Global biological responses that reflect disease or exposure biology are kinetic and highly dynamic phenomena. While high-throughput DNA sequencing continues to drive genomics, the possibility of more broadly measuring changes in gene expression has been a recent development manifested by a diversity of technical platforms. Such technologies measure transcripts, proteins and small biological molecules, or metabolites, and respectively define the fields of transcriptomics, proteomics and metabolomics that can be performed at a cell-, tissue-, or organism-wide basis. Bioinformatics is the discipline that derives knowledge from the large quantity and diversity of biological, genetic, genomic and gene expression data by integrating computer science, mathematics, statistics and graphic arts. Gene, protein and metabolite expression profiles can be thought of as snapshots of the current, poorly-mapped molecular landscape. The ultimate aim of genomic platforms is to fully map this landscape to more completely describe all of the biological interactions within a living system, during disease and toxicity, and define the behaviour and relationships of all the components of a biological system. The development of databases and knowledge bases will support the integration of data from multiple domains, as well as computational modelling. This chapter will describe the technical platform methods involving DNA sequencing, mass spectrometry, nuclear magnetic resonance combined with separation systems, and bioinformatics to derive genomic and gene expression data and include the relevant bioinformatic tools for analysis. These genomic, or omics platforms should have wide application to epidemiological studies.

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