New discoveries in human genetic variation

The genome sequences of 1,800 people from around the world and about 300,000 complete genomes from people who were alive at the time of the first known humans in Africa about 50,000 years ago were published today in the journal Nature. The paper’s lead author is Rand Venter, M.D., Ph.D., director of the Human Genome Project and the Howard Hughes Medical Institute.

“These genomes are the first to contain genetic information from the entire human population,” Venter said. “The genome sequences are not only useful for medical research, but they are also being used to help diagnose diseases and identify susceptibility genes for disease.”

The genomes also reveal the effects of population movement and human population expansion, Venter said. For example, genetic variation between people in Europe and Africa is due to the migration of humans from one continent to the other, but the same genetic variation is found in the genome of a group of people living in East Asia. “These studies show that genetic variation can move over huge distances in the human population,” he said.

Venter is a leading figure in the genetic field and is the co-founder of the Human Genome Project, which led to the sequencing of the human genome in the early 1990s. He co-founded the company that became known as Human Longevity Inc. (HLI), which produces technology to sequence genomes of people living long lives, such as those of living athletes. He is a co-founder of the nonprofit organization the Human Genome Project Foundation, which supports genome research.

In addition to Venter, the paper’s authors are: P. Gertsch, Ph.D., R. Collins, M.D., Ph.D., R. Macaulay, M.D., Ph.D., and S. Shetty, M.D., Ph.D.; Michael F. Pollard, M.D., Ph.D.; Shoukhrat Mitalipov, Ph.D.; and Albert Leblanc, Ph.D.

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