IN JUNE 2000, SCIENTISTS ANNOUNCED THE first draft of the human genome sequence had been completed. Generating the sequence was a technical feat – one that allowed scientists to begin reading humanity’s genetic blueprint – but it was still missing about eight per cent of the genome.
Now, an international consortium of about 100 scientists, dubbed the Telomere-to-Telomere (T2T) Consortium, say they’ve finally assembled the human genome in its entirety. If their work, which was published on 27 May 2021 to the preprint website bioRxiv, holds up to peer review, it could change the future of medicine. As researchers become more familiar with humanity’s genetic code, they can, for example, make more precise and effective medicines – including the kind of gene focused treatment that powered the first effective COVID-19 vaccines.
The first draft led to a boom in technology, like CRISPR, and therapeutics, but scientists didn’t realise how incomplete the draft was at the time, says Karen Miga, PhD, a genomics researcher at the University of California, Santa Cruz, and a member of the T2T Consortium.
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