Human Genomic Variation Database Launched for Clinical Use

A team of National Institutes of Health (NIH) supported scientists are developing the first database of human genomic variation, to aid in disease discovery research. Patients’ genetic data are increasingly being used to determine the DNA-derived component of diseases, in order to improve diagnosis and treatment.

The researchers – who received funding from the NIH’s National Human Genome Research Institute (NHGRI) – performed an analysis of 2,504 individuals’ genomes. The people selected for the study came from a wide range of genetic backgrounds, and are representative of 26 distinct populations in the Americas, Europe, Africa, East Asia and South Asia.

In all, the team identified approximately 88 million loci in the human genome, where individual people can have variations in the sequence. According to the NIH, it is this information that was used to create the database, which will be searchable by researchers wishing to understand how genomic differences may lead to altered responses to pharmaceuticals, and other treatments.

The present study is a continuation of the 1000 Genomes Project – an initiative launched in 2008, with a mission to further understand genomic variation in people from all over the world. According to Adam Auton, a researcher on the project, we’ve come a long way in terms of our understanding of variability between genomes. He says that the latest results increases the amount of information available and further clarifies, “the structure of human genomic variation and diversity.”

“The 1000 Genomes Project has laid the foundation for others to answer really interesting questions. Everyone now wants to know what these variants tell us about human disease,” said Auton. Results of the study were published in the journal, Nature.

The research team also identified approximately 69,000 structural differences between the 2,504 genomes analyzed. They classified the variation into 8 distinct classes to identify the structural changes that may be associated with disease states.

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

The NIH is committed to investing in genomic research, in order to advance our understanding of the genetic basis of disease and stimulate development of novel treatment therapies. Last month, the agency handed out 12 research grants to investigators developing a system combining electronic health records and genomic test data, in order to advance patient care.

Sources:

• Scientists unveil largest human genomic variation database for disease discovery – http://www.fiercemedicaldevices.com/story/scientists-unveil-largest-human-genome-database-disease-discovery/2015-10-01
• Sudmant, P., Rausch, T., Gardner, E., Handsaker, R., Anyzov, A., Huddleston, J., Zhang, Y., Ye, K., Jun, G., Fritz, M., Konkel, M., et al. (2015). An integrated map of structural variation in 2,504 human genomes. Nature. 526, 75-81.