5. Genomics Knowledge
Halla Thorsteinsdottir, Abdallah S Daar, Richard D Smith, Peter A Singer
What is genomics?
- Genes carry information about physical and functional inheritance (DNA) = genetic instructions for making organisms
- Genetics is the study of these genes to determine physical characteristics or roles in disease
- The genome is an organism’s entire genetic material: complete DNA (30-40,000 genes in humans)
Genes carry information about physical and functional inheritance vertically between generations. They are composed of deoxyribonucleic acid (DNA), arranged in the famous 'double helix', which carries the genetic instructions for making organisms. Although genes play a paramount role in the formation of the individual, they interact with various environmental factors in a complex manner to produce the final outcome. Genetics is the study of these genes, and specifically the study of single, or a small number of, genes to determine specific roles in diseases or individual physical characteristics.
The genome refers to an organism's entire genetic material, their complete set of DNA. The human genome is thus the genetic material that 'makes' a human (between 30,000 and 40,000 genes). Genomics is the examination of an organism's entire set of genes and their interactions in a comprehensive analysis of the genetic components of organisms, involving ‘structural genomics’, the mapping of theentire genome, and ‘functional genomics’, which seeks to discover the function and interaction of gene sequences.
Genomics is thus primarily concerned with the generation, dissemination and utilisation of knowledge about the genetic attributes of organisms. This requires massive amounts of genetic information to be collected and analysed. It has only evolved in the last few decades as a result of developments in analytical tools, such as DNA sequencers and genotyping techniques, which make it possible to easily characterise large numbers and types of genes in a single experiment. Advances in information technology have also contributed to the growth of genomics by providing the means to manage and process these large databases.