Scientists finally sequenced the entire human genome

DNA molecule, illustration

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When the Human Genome Project was announced complete in 2003, it had identified 92% of the genes, the rest remaining a mystery for nearly two decades due to technological limitations. Now, scientists have finished sequencing the remaining 8%, and The entire human genome has finally been sequenced.

Nearly 100 scientists from the Telomere-to-Telomere (T2T) consortium collaborated on the project to map the entire human genome. The An additional 8% were sequenced 400 million new characters added to existing sequencing DNA – enough for an entire chromosome, like CNN mentioned.

The extra genes are very important for adaptation, according to Evan Eichler, a lead contributor to the lead paper on the research and professor of genomics at the University of Washington in Seattle. They include the immune response genes that enable humans to adapt to and survive infections, epidemics and viruses, as well as genes that enable human brains to grow larger than those of other primates.

“I’ve always come back to this point, to comprehensively understand genetic diversity we need a complete reference,” Eichler said In a press release. “95% of the puzzle being solved is good enough for some people. But I think for me getting the last 5% was very important because I think a lot of what we don’t understand about disease, or that we don’t understand about evolution, is disproportionately represented in 5% of the genome that we did not sequence first.”

As detailed in the research published in six papers in the journal to know On March 31, the team used two DNA sequencing methods: the “ultra-long” Oxford Nanopore method, which sequences up to 1 million DNA characters with an error rate of 5%, and the PacBio HiFi sequencing method, which reads 20,000 characters at a time but has a much lower error rate (0.01%). While the researchers used the former to extend extended lengths of repetitive DNA, they used the latter to characterize how some of the lengths that appeared to be exact repeats were actually quite different.

The resulting fully sequenced genome is now a resource that other scientists can use to begin their own research, although it is only one example. The additional study, conducted by the T2T Consortium along with the Human Pangenome Reference Consortium, will build more examples of genomes, called haplotypes, from a variety of samples, according to the published research.

This is another big step in enabling humans to sequence individual genomes, which could drop in accessibility and cost to become a routine medical test that could result in less than $1,000, study author Adam Philip, a genomic scientist at the National Institutes of Health, told Network. CNN . In the meantime, scientists will be able to use the completed genome to check whether genetic differences are linked to specific cancers.

Even with this achievement, more work lies ahead – and a deeper understanding.

“We finished a genome; There will be hundreds, possibly thousands of genomes over the next few years, Eichler said in a statement. “I think our view of how humans are different from one another will change, and how important more complex genetic diversity is to not only making us human, but also making us different.”

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