The scientist who lead the private effort to sequence the human genome has revealed his own complete genetic make-up. The unveiling of J. Craig Venter's genome in the open access journal PloS Biology marks the first time that the complete DNA sequence of an individual has been published. In 2001, Venter's company Celera published a version of the human genome that was based on information from himself and four other individuals. At the same time, the publicly-funded Human Genome Project consortium released a consensus human genome, based on DNA samples from over 100 people.
The latest study shows that the amount of genetic variation between individuals is 5-7 times greater than previously suspected. In addition to the expected 3.2 million single DNA 'letter' changes known as SNPs, Venter's genome has nearly a million other variations, which involve small sections of missing, duplicated or 'flipped around' DNA. 'This is the first time that anyone has had an accurate representation of how much variation there is in a human genome', said co-author Stephen W. Scherer of Toronto University.
Commenting on the findings, Venter said that: 'each time we peer deeper into the human genome we uncover more valuable insight into our intricate biology', adding that 'only with additional sequencing of more individual genomes will we garner a full understanding of how our genes influence our lives'. He also revealed that the results show he has a moderate risk of developing Alzheimer's disease, saying 'there are two groups of people out there, the half that really want to know about themselves and the half that's afraid to know because of all this genetic deterministic nonsense', adding 'knowing what is there will do nothing to change what is already going on in my body'.
The new genome sequence, dubbed HuRef, was pieced together using the 'whole genome shotgun' method previously used by Celera. However, several organisations are now working on faster, cheaper methods that will eventually enable the genome of many more people to be sequenced. DNA pioneer James Watson is the only other person currently having his genome decoded.