Scientists finally finish decoding entire human genome
Scientists say they have finally assembled the full genetic blueprint for human life, adding the missing pieces to a puzzle nearly completed two decades ago.
An international team described the first-ever sequencing of a complete human genome, the set of instructions to build and sustain a human being, in research published on March 31 in the journal Science. The previous effort, celebrated across the world, was incomplete because DNA sequencing technologies of the day weren't able to read certain parts of it. Even after updates, it was missing about 8 percent of the genome.
"Some of the genes that make us uniquely human were actually in this 'dark matter of the genome' and they were totally missed," said Evan Eichler, a University of Washington researcher who participated in the current effort and the original Human Genome Project. "It took 20-plus years, but we finally got it done."
Many, including Eichler's own students, thought it had been finished already. "I was teaching them, and they said, 'Wait a minute. Isn't this like the sixth time you guys have declared victory? I said, 'No, this time we really, really did it!'"
Scientists said this full picture of the genome will give humanity a greater understanding of our evolution and biology while also opening the door to medical discoveries in areas like aging, neurodegenerative conditions, cancer and heart disease.
"We're just broadening our opportunities to understand human disease," said Karen Miga, an author of one of the six studies published on March 31.
The research caps off decades of work. The first draft of the human genome was announced in a White House ceremony in 2000 by leaders of two competing entities: an international publicly funded project led by an agency of...