New Genetics—From Sequence to Knowledge

When the first human genome sequence was finished in 2003, it quickly became clear that its seemingly unending stream of letters was not enough to comprehend what makes people tick. All the moving parts that bring the DNA code to life needed to be understood as well. To address this, researchers launched projects such as the Encylopedia of DNA Elements (Encode) and 1000 Genomes. In Encode, more than 440 scientists collaborated to identify functional parts of the genome—those regions that regulate how, when, and where different genes are turned on or off. In 2012, the consortium released data in a fusillade of papers, including six in the September 6 Nature. The scientists found that about 80 percent of the genome, much of which was previously considered “junk” DNA, has at least one biochemical function in some cells. Though the scientists have not yet examined every human cell type, this latest effort widens their window into the intricacies of the genetic code. The data could help researchers understand how genetic variants outside of genes can alter risk for disease, including neurodegenerative disorders such as Alzheimer’s. Other genetics initiatives are generating bucket loads of sequence data for researchers to mine.