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    Friday, 11 June 2021

    After 20 years, the human genome is (almost) complete — here’s what’s left to do


    The release of the draft human genome sequence in 2001 was a seismic moment in our understanding of the human genome and paved the way for advances in our understanding of the genomic basis of human biology and disease. But sections were left unsequenced, and some sequence information was incorrect. Now, two decades later, we have a much more complete version, published as a preprint (which is yet to undergo peer review) by an international consortium of researchers. Technological limitations meant the original draft human genome sequence covered just the “euchromatic” portion of the genome — the 92% of our genome where most genes…

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