Sequencing the Human Genome: Novel insights into its structure and function

The availability of the human genome sequence has had an enormous impact on biomedical research. New discoveries emanating directly from the elucidation of the human genome sequence have included the unexpectedly low total number of genes, the existence of numerous transcribed but noncoding sequences and the multiplicity of low-copy repeats and segmental duplications. The Human Genome Project has also spawned new research projects such as Encyclopedia of DNA Elements (ENCODE), Haplotype Map (HapMap) 1000 Genomes Project and the Human Variome Project which together are helping to reveal the remarkable complexity and diversity of the human genome. Finally, comparison of the human reference genome sequence with the genomes of other human species such as the Neanderthal and Denisovan or with other vertebrates has opened up numerous research avenues in evolutionary biology