An international team of scientists from the 1000 Genomes Project Consortium has created the world’s largest catalog of genomic differences among humans, providing researchers with powerful clues to help them establish why some people are susceptible to various diseases. While most differences in peoples’ genomes — called variants — are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to susceptibilities to cancer, obesity, diabetes, heart disease, and other disorders. Understanding how genomic variants contribute to disease may help clinicians develop improved diagnostics and treatments, in addition to new methods of prevention. 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 published online on Sept. 30, 2015, in Nature, and then in the October 1, 2015 Nature print issue, investigators examined the genomes of 2,504 people from 26 populations across Africa, East and South Asia, Europe and the Americas. Nature features the project completion on the cover of its October 1, 2015 print issue. This collector’s-item Nature issue also provides a number of other notable related articles. These include “Human Genome Project: 25 Years of Big Biology,” by Eric D. Green, James D. Watson, and Francis S. Collins; a Nature editorial titled “Variety of Life” on the 1000 Genomes Project; and an article by the UK10K Consoritium titled “The UK10K Project Identifies Rare Variants in Health and Disease.” All these articles, as well as the two 1000 Genomes Project studies, are open-access.
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