Craig Venter publishes his diploid genome

Edge 221 is a fun issue, beginning with the translation from German of a Jordan Mejias’ report on the meeting at Brockman’s farm:

Was Evolution only an interlude? At the invitation of John Brockman, science luminaries such as J. Craig Venter, Freeman Dyson, Seth Lloyd, Robert Shapiro and others discussed the question: What is Life?

EASTOVER FARM, August 30th

It sounds like seaman’s yarn what the scientist with the look of a sea dog has in store for us. The suntanned adventurer with the close-clipped grey beard vaunts the ocean as a sea of bacteria and viruses, unimaginable in their varieties. And in their lifestyle, as we might call it. But what do organisms live off? Like man, not off air or love alone. There can be no life without nutrients, it is said. Not true, says the sea dog. Sometimes a source of energy is enough, for instance, when energy is abundantly provided by sunlight. Could that teach us anything about our very special form of life?

J. Craig Venter, the ingenious decoder of the genome, who takes time off to sail around the world on expeditions, balances his flip-flops on his naked feet as he tells us about such astounding phenomena of life. Us, that means a few hand-picked journalists and half a dozen stars of science, invited by John Brockman, the Guru of the all encompassing “Third Culture”, to his farm in Connecticut.

Relaxed, always open for a witty remark, but nevertheless with the indispensable seriousness, the scientific luminaries go to work under Brockman’s direction. He, the master of the easy, direct question that unfailingly draws out the most complicated answers, the hottest speculations and debates, has for today transferred his virtual salon, always accessible on the Internet under the name Edge, to a very real and idyllic summer’s day. This time the subject matter is nothing other than life itself. <more>

Edge offers links to several media reports on the new Venter Institute paper in Plos Biology. Here’s a brief report from ScienceNow:

For the first time, researchers have published the DNA sequence from both sets of chromosomes in a single person. That person is none other than pioneering genome researcher J. Craig Venter. The new sequence suggests that there is substantially more variation between humans than previously recognized and pushes personalized medicine a step closer.

In 2001, Celera Genomics, a company then headed by Venter, and, separately, the International Human Genome Project consortium each published a genetic blueprint for a human. To save time and money, both teams combined samples from several individuals and created composite genomes that contained only half of a human’s DNA. Humans have a diploid genome with 23 pairs of chromosomes–with one of each pair contributed by the father and the other by the mother—and the researchers hoped that these partial “haploid” genomes wouldn’t sacrifice much detail. Wrong, says a massive 31-page paper published in the October 2007 PLoS Biology by Venter, his colleagues at the J. Craig Venter Institute in Rockville, Maryland, and collaborators from three universities.

According to the study, haploid genomes underestimate the amount of genetic variation between individuals by a factor of 5. “We all had very naïve assumptions because we didn’t have that much data to go on,” says Venter.

Venter and co-workers compared his two haploid genomes to assess the differences between the DNA he inherited from his mother and that from his father. They looked for everything from easy-to-find differences in single bases to much more obscure variations in chunks of DNA sequence that had been inserted or deleted from chromosomes. All told, the analysis found more than 4 million variants between Venter’s maternal and paternal chromosomes. This suggests that humans differ by 0.5%, not 0.1% as suggested by earlier estimates. (Some researchers, however, note that recent studies of insertions and deletions have emphasized the same point.)

“This is a great study,” says Harvard University geneticist George Church, an early proponent of the Human Genome Project. “We need to have diploid genomes to sort out our full inheritance. If I walk in to a doctor, it isn’t going to do either of us any good if he just gets my dad’s genome.”

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