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.
Series
New Genetics—From Sequence to Knowledge
ENCODE Turns Human Genome From Sequence to Machine
This is Part 1 of a two-part story. See also Part 2. When the first human genome sequence was finished in 2003, it quickly became clear that its seemingly unend...
Newly Mapped DNA Elements Help Interpret GWAS
This is Part 2 of a two-part story. See also Part 1. With the advent of inexpensive genotyping technology, genomewide association studies (GWAS) have turned up tho...
Genetics Project Update: Over 1,000 Genomes and Counting
Your mama always told you that you were special. Now, an international consortium of researchers has clarified just how unique we all are. Each human being harbors several thousand genetic variants, hundreds of which are rare, according to a progr...
Thousands of Whole Genomes to Be Mined for New Clues to AD
With its ever-dropping price tag, whole-genome sequencing is taking off in Alzheimer's research. Several new collaborative projects aim to use this technology to more deeply understand Alzheimer's disease and find genetic clues to better d...