Se determina el genoma completo de un ser humano

Craig Venter, un pionero del estudio del genoma, ha publicado su propio genoma con todo detalle y de libre acceso a través de internet. Este es el primer genoma humano publicado, con todos los detalles personales, salud y origen. Es una prueba de la generosidad y convicciones de este científico.

Craig Venter La carrera por la publicación del genoma de una persona empezó hace 6 años. Hasta ahora se había publicado un mosaico de varias personas. La diferencia entre el genoma de una persona y otra se ha calculado que afecta al 4,5% del material genético. El genoma de Venter aprece que ha heredado pocos factores de riesgo cardiacos de sus ancestros (su padre murió a los 59 años de infarto).

The Canadian Press, entre otros muchos medios de comunicación, ha reseñado la importancia del descubrimiento:

TORONTO (CP) — ... Craig Venter, whose former company Celera Genomics did much of the groundbreaking work in the original mapping of the human genome from a composite of several individuals' DNA, becomes the first person to have his full genetic code on the Internet for anyone to see.
Venter's genome - which includes genes inherited from both his parents - is published online in the latest issue of PLoS Biology, thereby providing researchers with a rich reference source for comparing DNA sequences from other human beings.
But it also means that anyone can peer into his most basic makeup, and those in the genetic know may find out things about him - his predisposition to develop cancer, for instance - even before he does.
So why did he choose to put himself out there?
"This started back at Celera when I was sequencing the human genome for the first time and there was just so much discussion about how people should be afraid of their genetic codes and how are we possibly going to find somebody's genome to sequence because . . . their life histories would all be displayed in the world," Venter, 60, said in an interview from La Jolla, Calif.
"I thought that was just nonsense," said Venter, now president of the J. Craig Venter Institute, a non-profit research organization in Rockville, Md.
"It's such overinterpretation of what the genetic code can tell us and not tell us. What the genetic code will give us is statistical probabilities and possibilities."
Venter's DNA shows he has a high probability of having blue eyes - he does -and a likelihood of elevated cholesterol. In fact, his father died of heart disease at 59, but his 84-year-old mother plays golf twice a week.
"There are things like eye colour and exciting things like ear wax viscosity to a propensity for heart disease and potentially Alzheimer's," he said of his profile. "I think my autobiography ("A Life Decoded," out in October) . . . is far more revealing than my genetic code could ever be."
As the first person to have his genome published, Venter has been accused of being an egomaniac by some and lauded as unselfish by others.
His response: "I guess, 'It doesn't matter' to one and 'Thank you' to the other," he deadpanned.
But scientists say the latest genome sequencing - dubbed "HuRef" - is less about Venter and more about advancing medicine as a whole.
"It gives you the landscape of what a general genome looks like," said Dr. Stephen Scherer, whose team at the Centre for Applied Genomics at Toronto's Hospital for Sick Children collaborated on Venter's DNA profiling.
"For the first time, we have a really good idea of how much variation there is in the human genome."
In fact, it turns out that scientists had "greatly underestimated" human diversity, said Venter.
"We thought we were far more identical to each other genetically and we're saying now that the human-to-human differences are at least 10 times higher."
Scherer said earlier research suggested that people worldwide were about 99.9 per cent genetically similar. But having an individual genome that included genes inherited from two parents (known as a diploid genome) opened a new window for scientists, who found that the similarity from one person to the next is more in the order of 99.5 per cent.
That may not sound like much of a difference, but consider the enormity of the numbers involved and it becomes clear just how significant this variation can be.
The human genome, often called the Book of Life, is made up of about three billion letters - chemical base pairs called nucleotides. Each of its 25,000 to 30,000 pages (or 25,000 to 30,000 genes) contains about 100,000 letters each.
Venter's genome contains 4.1 million variants covering 12.3 million base pairs of DNA, with more than 1.2 million new variants discovered.
"That's the point of a diploid genome: we're true combinations of our parents and each one of us is a different combination," said Venter. "So those are going to take years for us to learn how to interpret, only after we've done tens of thousands of human genomes."