Currently, much genomics research focuses on genome structure and function. A signature major international research initiative in this area is the ENCODE project (ENCylopedia Of Dna Elements).17 Initiated by the National Institutes of Health (NIH) in 2003, ENCODE’s stated goal was to define the functional elements required for normal genome function. Global collaborative networks of scientists have effectively employed a broad range of approaches, both in silico (computer based) and in bench laboratory investigations, to tackle the dissection of functional elements in the genome. In September 2012 a coordinated release of 40 publications provided a tour de force of the ability of focused ENCODE collaborative effort to advance science. 18 The emerging picture of the genome is far from the old portrait of widely spaced protein coding genes acting in isolation and separated by “junk” DNA; now over 80% of the human genome has an ascribed function, much of which is related to appropriate coordination of gene expression.19 The clinical implications of these very new observations are unclear; however, it seems likely that many variations in these regions are important for disease pathogenesis, perhaps through quantitative and qualitative changes in gene expression.
