Help is at hand for scientists struggling to make sense of the current flood of human genome sequence data: the Encyclopedia of DNA Elements (ENCODE). Now an accompanying user guide is available.
The guide — published by a consortium composed of dozens of international research groups — describes data from more than 100 human cell types that define the functional elements in the genome, including more than 2 million regulatory regions. The team mapped RNA transcribed from DNA; protein-binding sites; and 'epigenetic' modifications to DNA's structure, such as DNA methylation patterns. Together, these should help researchers work out possible roles for sequence variants that have been linked to a disease.
For example, ENCODE data helped to clarify how a DNA region upstream of a cancer-promoting gene called c-Myc regulates the gene: by attracting and binding proteins that enhance its expression.
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A guided tour of the genome. Nature 473, 8–9 (2011). https://doi.org/10.1038/473008d
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DOI: https://doi.org/10.1038/473008d