The world’s largest catalog of human genomic variation.

08 October 2015

The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, helped fund and direct this international public-private consortium of researchers in the United States, the United Kingdom, China, Germany and Canada.

In two studies investigators examined the genomes of 2,504 people from 26 populations across Africa, East and South Asia, Europe and the Americas. The 26 populations studied included groups such as the Esan in Nigeria; Colombians in Medellin, Colombia; Iberian populations in Spain; Han Chinese in Beijing; and Sri Lankan Tamil in the United Kingdom.

In the main Nature study, investigators identified about 88 million sites in the human genome that vary among people, establishing a database available to researchers as a standard reference for how the genomic make-up of people varies in populations and around the world. The catalog can now be used in a wide range of studies of human biology and medicine, providing the basis for a new understanding of how inherited differences in DNA can contribute to disease risk and drug response.

Read more about the study at www.nature.com