Scientists unveil largest human genomic variation database for disease discovery

Adam Auton

As scientists explore the genetic underpinnings of disease to help develop new diagnostics and treatments, an NIH-backed team of researchers is creating the world's largest database of human genomic variation aimed at clinical use.

A group of scientists partly funded by the NIH's National Human Genome Research Institute (NHGRI) examined the genomes of 2,504 people from 26 populations in Africa, East and South Asia, Europe and the Americas, and pinpointed about 88 million sites in the human genome that vary among people. Researchers used their findings to create a reference database that allows scientists to look at difference in genomic makeup, and potentially understand how the variations in DNA could contribute to disease risk or drug response, the NIH said in a statement. Scientists published their findings in a recent issue of Nature.

The research builds on the 1000 Genomes Project, which aims to uncover variations in the human genome to learn more about disease. When 1000 Genomes Project launched in 2008, there wasn't as much understanding about genomic variants on a global scale, main study author Adam Auton said in a statement. The latest findings help increase the available data and further illuminates "the structure of human genomic variation and diversity," he added.

"The 1000 Genomes Project has laid the foundation for others to answer really interesting questions," Auton said. "Everyone now wants to know what these variants tell us about human disease."

As part of the research, scientists also looked at the differences in the structure of the genome from 2,504 samples. The team identified about 69,000 differences, or structural variants, and created a map of 8 classes of genomic differences that may contribute to disease.

"Structural variation is responsible for a large percentage of differences in the DNA among human genomes," Jan Korbel, group leader and European Research Council Investigator in the Genome Biology Unit of the European Molecular Biology Laboratory in Heidelberg, Germany, said in a statement. "No study has ever looked at genomic structural variation with this kind of broad representation of populations around the world."

Meanwhile, the NIH continues to invest in genomics research to spur disease discovery. The agency last month awarded a dozen grants to scientists exploring ways to combine genomic test information with electronic health records to improve care for patients. With funding in tow, scientists will look at 100 genes and see how differences could affect a person's treatment choices or health.

- read the NIH statement
- get the research abstract

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