An international research consortium is working to develop a free, open-source encyclopedia cataloging the human genome’s functional elements for the scientific community and for the general public. The Encyclopedia of DNA Elements, or ENCODE, was launched in 2003 and, yesterday, researchers published a paper in PLoS Biology offering a guide for using the vast amounts data produced so far by the project. According to a release from the National Human Genome Research Institute:
In this new publication, the team describes the data being generated on the entire human genome and provides examples of how these data are shining a new light on important biological questions. As an example, this work shows how the data can be immediately useful in interpreting associations between single nucleotide (single DNA building blocks) differences in individuals and disease. For example, ENCODE data confirm recent observations by other groups that variations in regions of DNA very far from the protein-coding region of the MYC gene change the binding of transcription factor proteins to a genetic control region, leading to changes in expression of the MYC gene and therefore to oncogenesis, the process by which normal cells are turned into cancerous cells. These findings suggest a mechanism for genetic association with multiple cancers lying outside of the protein-coding sequence of a gene.