Big data finds genetic clues in humans Posted on : Mar 29 - 2015

Big Data is a term we read and hear about often, but outside the obvious terms, 'big' and 'data', and what they casually mean, it can be hard to grasp. Computer scientists at Washington University in St. Louis' School of Engineering & Applied Science tackled some big data about an important protein and discovered its connection in human history as well as clues about its role in complex neurological diseases.

Through a novel method of analyzing these big data, Sharlee Climer, PhD, research assistant professor in computer science, and Weixiong Zhang, PhD, professor of computer science and of genetics at the School of Medicine, discovered a region encompassing the gephyrin gene on chromosome 14 that underwent rapid evolution after splitting in two completely opposite directions thousands of years ago. Those opposite directions, known as yin and yang, are still strongly evident across different populations of people around the world today.

The results of their research, done with Alan Templeton, PhD, the Charles Rebstock professor emeritus in the Department of Biology in the College of Arts & Sciences, appear in the March 27 issue of Nature Communications.

The gephyrin protein is a master regulator of receptors in the brain that transmit messages. Malfunction of the protein has been associated with epilepsy, Alzheimer's disease, schizophrenia and other neurological diseases. Additionally, without gephyrin, our bodies are unable to synthesize an essential trace nutrient.

The research team used big data from the International HapMap Project, a public resource of genetic data from populations worldwide designed help researchers find genes associated with human disease, as well as from the 1000 Genomes project, another public data source of sequenced human genomes. In total, they looked at the genetic data from 3,438 individuals.

When they analyzed the data, they made an interesting discovery in a sequence of markers, called a haplotype, enveloping the gephyrin gene: up to 80 percent of the haplotypes were perfect yin and yang types, or complete opposites of the other. They were able to trace the split back to what is known as the Ancestral haplotype, or that of the most recent common human ancestor.  View More