Human blueprint breakthrough: Scientists publish 'gapless' human genome
Source: Washington Post
An important detail went largely unnoticed amid the celebrations two decades ago of the mapping of the human genome: The job wasn’t really done. The historic sequencing of the roughly 3 billion letters that represent the blueprint of humans was only about 92 percent complete.
Scientists had done all they could do with the technology of the day, and soon after the turn of the century, they published their final map. But sections of the genome remained mysterious, with repeated letters that ran on and on like a needle skipping on a scratched record album. The mapping of those sections was kicked down the road, to some future era when new technologies would complete the job.
That future has arrived. In a paper published Thursday in the journal Science, a massive collaboration of researchers from government, academic and private organizations, called the Telomere-to-Telomere consortium, produced the first full, “gapless” human genome.
“Hallelujah, we finally finished one human genome,” Evan Eichler, a University of Washington geneticist and one of the leaders of the project, said in a news briefing Thursday.
Read more: https://www.washingtonpost.com/science/2022/03/31/human-genome-complete/
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https://www.science.org/doi/10.1126/science.abp8653
The brick red sections were originally the missing pieces.
