SoylentNews

takyon [soylentnews.org] writes:

The Human Genome Is—Finally!—Complete [theatlantic.com]

When the human genome was first deemed "complete" [nytimes.com] 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 [nytimes.com]. "We are standing at an extraordinary moment in scientific history," one prominent scientist declared [genome.gov] 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 [cnn.com] of headlines [nytimes.com], 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 [biorxiv.org] 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 [github.com]
CHM13 T2T v1.1 [nih.gov] (NCBI)

See also: A complete human genome sequence is close: how scientists filled in the gaps [nature.com]
Researchers claim they have sequenced the entirety of the human genome — including the missing parts [statnews.com]
The Entire Human Genome Finally Sequenced! Here's What This Means [youtube.com] (11m21s video)

Original Submission