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Scientists are finally done mapping the human genome, more than two decades after the first draft was completed, researchers announced Thursday. About 8% of genetic material had been impossible to decipher with previous technology. Completing the final pieces is like adding the continent of Africa to a map of the globe that lacked it, said Michael Schatz, who participated in the research and is a professor of computer science and biology at Johns Hopkins University. Missing that 8% still allowed scientists to get the gist of the story of human genetics, said Jonas Korlach, chief scientific officer of Pacific Biosciences, the company whose technology was used to fill the gaps. (Weintraub, 3/31)

The new research introduces 400 million letters to the previously sequenced DNA – an entire chromosome’s worth. The full genome will allow scientists to analyze how DNA differs between people and whether these genetic variations play a role in disease. The research, published in the journal Science on Thursday, was previously in preprint, allowing other teams to use the sequence in their own studies. Until now, it was unclear what these unknown genes coded. (Ahmed, 3/31)

Exploiting the new map for medical care would likely take years of additional research, said Wendy Chung, a Columbia University geneticist who wasn’t involved in the effort. But the map “gets us to the starting line,” she said, adding, “We have patients with diseases that we know are genetic but we haven’t been able to identify. I hope this map will help us fill in some of the gaps in our knowledge.” (Dockser Marcus, 3/31)

This legwork could one day assist researchers in identifying the genetic causes of disorders, untangling the mysteries of what drives some cells to become cancerous and help explain how different groups of people developed different traits over time, such as the ability to thrive at high altitude. “It’s a landmark,” said Steve Henikoff, a molecular biologist and a professor at the Fred Hutchinson Cancer Research Center and the University of Washington, who was not involved in the project. (Bush, 3/31)

The work cost in the millions of dollars, but it was a far cry from the billions used to create the draft, said Adam Phillippy, consortium co-chair and head of the National Human Genome Research Institute’s Genome Informatics Section. The cost and complexity mean it’s not yet common for people to have their genes mapped out, but the new findings and advancements in technology could make it far cheaper and more common for doctors to go looking for genetic defects in their patients that have immediate implications or effects down the line, he said. (Cohn, 3/31)