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) and Haplotype Map (HapMap) which together are helping to reveal the remarkable complexity of the human genome. Finally, comparison of the human genome sequence with the genome sequences of other higher organisms has opened up numerous research avenues in evolutionary biology.

Keywords: Human Genome Project (HGP); ENCODE project; HapMap project; nonprotein-coding genes; gene definition; ultraconserved elements; segmental duplications

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Kehrer‐Sawatzki, Hildegard, and Cooper, David N(Jul 2008) Sequencing the Human Genome: Novel Insights into its Structure and Function. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0001899.pub2]