The ENCODE Project
Nine years after the launch of the project with the goal of describing every functional element in the human genome, the Encyclopedia Of DNA Elements (ENCODE) has culminated in 30 research papers, 6 of which are published in the current issue of the journal Nature. A headline in The New York Times for an article by Gina Kolata on ENCODE sums up the findings like this: "Bits of Mystery DNA, Far From ‘Junk,’ Play Crucial Role."
The introduction to the 6 papers in Nature says: "Among the many important results there is one that stands out above them all: more than 80% of the human genome's components have now been assigned at least one biochemical function."
The papers are free to for anyone to read online, and the articles "are complemented by an extensive range of online features (nature.com/encode)." You'll find interactive figures in the overview ENCODE paper as well as a "virtual machine" that explores the "dizzying amount" of data.
The introduction goes on to say that among the many mysteries of human biology "is why complex diseases like diabetes, high blood pressure and psychiatric disorders are so difficult to predict and, often, to treat. An equally perplexing puzzle is why one individual gets a disease like cancer or depression, while an identical twin remains perfectly healthy. Now scientists have discovered a vital clue to unraveling these riddles . . . The discovery, considered a major medical and scientific breakthrough, has enormous implications for human health because many complex diseases appear to be caused by tiny changes in hundreds of gene switches."