This is particularly the case for rare genetic diseases, which require large datasets to find statistically significant correlations, which can identify causations. By aggregating genomic profiles from across the population we can develop invaluable datasets to which advanced analytics and AI can be applied to develop a much more detailed understanding of the polygenetic causative factors, and thus potential treatments, of disease. The study of genomics also has enormous benefits at a population level. This is critical to informing lifestyle choices, the design of built environments, and medical decisions to prevent, treat or cure certain conditions. The ability to read the genomic profile of an individual, in conjunction with understanding their environment, is critical in helping us to predict the likelihood of these diseases occurring, as well as to identify individuals that may be predisposed to certain risk factors. More commonly, however, disease results from a complex combination of genetic and environmental factors, as is the case for cancers, dementia and cardiovascular diseases – the leading causes of death in advanced economies. There are a multitude of ‘single-gene’ disorders, including cystic fibrosis and sickle cell anaemia, which can arise from mutation of just one point in a single gene. Such differences (mutations) are often associated with disorders and disease but can also be associated with other factors like disease resistance or sensitivity to an environmental perturbation like sunlight or exercise. Whole-genome sequencing, pioneered by the Human Genome Project, enables us to read a person's individual genome and, among other things, identify differences from the average human genome. While this sequence of base pairs is virtually identical in every human, differentiating us from, say, a chimpanzee or a mouse, there are nonetheless subtle differences in each of our individual genomes that make us unique. The Human Genome – the complete map of all 23 large DNA sequences (chromosomes) that encodes our species – comprises a total of around 3 billion base pairs contained within the nuclei of each of our cells. Different combinations of these base pairs encode the blueprints for constructing every molecular machine that life needs to function.Ī genome is the complete set of DNA sequences in an organism and contains all of the instructions required for that organism to function, including embryogenesis, growth, responding to the environment, and healing from disease. It comprises long sequences of base pairs (bps), each of which represent one of four values (A, T, C or G), similar in the way binary digit (bit) data storage is used in computing. DNA is the fundamental biological unit of data storage.
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