An international team described the first-ever sequencing of a complete human genome in research published Thursday in the journal Science. The previous effort, announced in 2000, was incomplete.
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 Thursday 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% of the genome.
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. In this April 14, 2003, photo, Francis Collins, director of the National Human Genome Research Institute, announces the completion of the human genome project in Bethesda, Md. But there were missing pieces all along.
Before now, there were “large and persistent gaps that have been in our map, and these gaps fall in pretty important regions,” Miga said. “This is a major improvement, I would say, of the Human Genome Project,” doubling its impact, said geneticist Ting Wang of the Washington University School of Medicine in St. Louis, who was not involved in the research.
Scientists said some areas were illegible before improvements in gene sequencing machines that now allow them to, for example, accurately read a million letters of DNA at a time. That allows scientists to see genes with repeated areas as longer strings instead of snippets that they had to later piece together.
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