Genomics in medicine

Nearly all diseases have a genomic basis. This varies from rare ‘single-gene disorders’ such as Duchenne muscular dystrophy, to ‘complex’ or ‘polygenic’ diseases such as type II diabetes mellitus and ulcerative colitis. Cancer is a genomic disease in which tumour evolution is driven by serial acquisition of somatic mutations. Investigation of genetic disorders has been predicated on available technologies, which until recently have been expensive, slow, low-throughput and therefore limited in availability.

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