The publication of the first draft of the human genome sequence in 2001 was followed by the advent of high-throughput methodologies, which together have driven the expansion of genomic tools and technologies. These efforts have enabled the sequencing of millions of genomes and expedited the functional and clinical annotation of the human genome. The resulting discovery of thousands of gene–disease associations and the characterization of human genetic variation at scale has extended the application of genomics to enable diagnosis, prognosis and clinical management of disease, as well as risk prediction and implementation of preventive measures.
