First genome of both chromosomes of a single individual published

NEWS IN BRIEF — Posted Sept. 24, 2007

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The human genome has much greater variation than previously thought, according to a paper published Sept. 3 in PloS Biology.

Researchers analyzed the genetic sequence of chromosome pairs taken from J. Craig Venter, PhD, one of the scientists behind the human genome published in 2001. The earlier sequence, along with one put together by a consortium of government researchers, was a mosaic of DNA gathered from numerous individuals.

This latest one, called HuRef, is the first diploid sequence for an individual and was created by researchers at the J. Craig Venter Institute in Rockville, Md., in collaboration with Toronto's Hospital for Sick Children and the University of California, San Diego. Researchers found more than 1.2 million genetic variants that had not been documented before.

"With this publication, we have shown that human-to-human variation is five- to seven-fold greater than earlier estimates, proving that we are in fact more unique at the individual genetic level than we thought," said Dr. Venter, who is also chair and president of the institute that bears his name. "It is clear, however, that we are still at the earliest stages of discovery about ourselves, and only with additional sequencing of more individual genomes will we garner a full understanding of how our genes influence our lives."

Note: This item originally appeared at

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