Merrick B Alex, London Robert E, Bushel Pierre R, Grissom Sherry F, Paules Richard S
National Institute for Environmental Health Sciences, Research Triangle Park, NC, USA.
IARC Sci Publ. 2011(163):121-42.
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.
反映疾病或暴露生物学的全球生物学反应是动态的且高度变化的现象。虽然高通量DNA测序继续推动基因组学发展，但更广泛地测量基因表达变化的可能性是近期的一个发展趋势，这体现在多种技术平台上。此类技术可测量转录本、蛋白质和小生物分子或代谢物，并分别定义了可在细胞、组织或整个生物体层面进行的转录组学、蛋白质组学和代谢组学领域。生物信息学是一门通过整合计算机科学、数学、统计学和图形艺术，从大量且多样的生物学、遗传学、基因组学和基因表达数据中获取知识的学科。基因、蛋白质和代谢物表达谱可被视为当前尚未充分描绘的分子景观的快照。基因组平台的最终目标是全面描绘这一景观，以更完整地描述生命系统在疾病和毒性过程中的所有生物相互作用，并定义生物系统所有组成部分的行为和关系。数据库和知识库的发展将支持来自多个领域的数据整合以及计算建模。本章将描述涉及DNA测序、质谱分析、核磁共振与分离系统相结合的技术平台方法，以及用于获取基因组和基因表达数据的生物信息学方法，并介绍相关的生物信息学分析工具。这些基因组学或组学平台应在流行病学研究中有广泛应用。
