Scientists publish the first complete human genome

A portrait of a girl’s colored face as she participates in Holi celebrations in Ahmedabad, India, March 18, 2022. REUTERS/Amit Dev

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WASHINGTON (Reuters) – Scientists on Thursday published the first complete human genome to fill in the gaps left after previous efforts, while offering new promise in the search for clues about disease-causing mutations and genetic diversity among the world’s 7.9 billion people.

In 2003 researchers revealed what was later called the complete sequencing of the human genome. But about 8% of them have not been fully decoded, mainly because they are made up of highly repetitive pieces of DNA that are difficult to attach to the rest.

A union of scholars solved this in Research Published in the journal Science. The work was initially announced last year before the formal peer review process.

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“Producing a truly complete human genome sequence is an incredible scientific achievement, providing the first comprehensive view of our DNA scheme,” said Eric Green, director of the National Human Genome Research Institute (NHGRI), part of the US National Institutes of Health. in the current situation.

“This foundational information will enhance the many ongoing efforts to understand all the functional nuances of the human genome, which in turn will enable genetic studies of human disease,” Green added.

The complete version of the consortium consists of 3.055 billion base pairs, the units from which chromosomes and our genes are built, and 19,669 genes that encode proteins. Among these genes, the researchers identified about 2,000 new genes. Most of these are disabled, but 115 may still be active. The scientists also discovered about two million additional genetic variants, 622 of which were present in genes relevant to medicine.

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The union was called telomere-to-telomere (T2T), named after the structures at the ends of all chromosomes, the thread-like structure in the nucleus of most living cells that carries genetic information in the form of genes.

“In the future, when a person’s genome is sequenced, we will be able to identify all the variants in their DNA and use that information to better guide healthcare,” Adam Philip, one of the T2T leaders and chief investigator at NHGRI, said in a statement.

“Finishing really the sequencing of the human genome was like putting on a new pair of glasses. Now that we can see everything clearly, we are one step closer to understanding what it all means,” Felipe added.

Among other things, the new DNA sequences provided new details about the region around the so-called centromere, where chromosomes are grabbed and separated when cells divide to ensure that each “daughter” cell inherits the appropriate number of chromosomes.

“The whole sequencing of these previously missing regions of the genome has told us a lot about how they are organized, which is completely unknown for many chromosomes,” said Nicholas Altemos, a postdoctoral fellow at the University of California, Berkeley, in the study. statment.

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Reporting by Will Dunham; Editing by Rosalba O’Brien

Our criteria: Thomson Reuters Trust Principles.

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