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The Human Genome Is—Finally!—Complete
When the human genome was first deemed "complete" in 2000, the news was met with great international fanfare. The two rival groups vying to finish the genome first—one a large government-led consortium, the other an underdog private company—agreed to declare joint success. They shook hands at the White House. Bill Clinton presided. Tony Blair beamed in from London. "We are standing at an extraordinary moment in scientific history," one prominent scientist declared when those genomes were published. "It's as though we have climbed to the top of the Himalayas."
But actually, the human genome was not complete. Neither group had reached the real summit. As even the contemporary coverage acknowledged, that version was more of a rough draft, riddled with long stretches where the DNA sequence was still fuzzy or missing. The private company soon pivoted and ended its human-genome project, though scientists with the public consortium soldiered on. In 2003, with less glitz but still plenty of headlines, the human genome was declared complete once again.
But actually, the human genome was still not complete. Even the revised draft was missing about 8 percent of the genome. These were the hardest-to-sequence regions, full of repeating letters that were simply impossible to read with the technology at the time.
Finally, this May, a separate group of scientists quietly posted a preprint online describing what can be deemed the first truly complete human genome—a readout of all 3.055 billion letters across 23 human chromosomes. The group, led by relatively young researchers, came together on Slack from around the world to finish the task abandoned 20 years ago. There was no splashy White House announcement this time, no talk of summiting the Himalayas; the paper itself is still under review for official publication in a journal. But the lack of pomp belies what an achievement this is: To complete the human genome, these scientists had to figure out how to map its most mysterious and neglected repeating regions, which may now finally get their scientific due.
Telomere-to-telomere consortium
CHM13 T2T v1.1 (NCBI)
See also: A complete human genome sequence is close: how scientists filled in the gaps
Researchers claim they have sequenced the entirety of the human genome — including the missing parts
The Entire Human Genome Finally Sequenced! Here's What This Means (11m21s video)
(Score: 0) by Anonymous Coward on Sunday June 13 2021, @02:07PM (3 children)
Unless you believe sequence for give human is also the same as what makes up you.
Unless they have added number generator of all letters. Then what good is it?
(Score: 0) by Anonymous Coward on Sunday June 13 2021, @03:04PM
Has Anyone Really Been Far Even as Decided to Use Even Go Want to do Look More Like?
(Score: 2) by takyon on Sunday June 13 2021, @06:09PM
If you can find the differences from the reference sequence, you can compress an individual's sequence. But you run into the same problem of the hard to sequence "junk DNA".
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(Score: 1, Interesting) by Anonymous Coward on Sunday June 13 2021, @09:26PM
In principle, there is no need to completely resequence whole genomes. In most cases researchers are only interested in specific parts (disease research and such) and the reference genome speeds up their work.
Though, there is the 1000 genomes project, because sometimes researchers are also interested in variabillity within genomes.
As for the "for real this time?" question, the first draft was the "good enough to work with"-version. Every new attempt to get more reads helps to complete the sequence, but adds less usefullness every time. Though, for a 100% read I think we need some technological breakthrough first (current methods can't guarentee that you have 100% read).