Scientists publish the primary full human genome

A woman’s face is stained with colors as she participates in Holi celebrations in Ahmedabad, India, March 18, 2022. REUTERS / Amit Dave

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WASHINGTON, March 31 (Reuters) – Scientists revealed the complete primary human genome on Thursday, filling in the remaining gaps after previous efforts while offering new promise in the search for clues about pathogenic mutations and genetic variations among the world’s 7.9 billion people.

In 2003, researchers unveiled what was then billed as the complete sequence of the human genome. However, about 8% of it had not been fully deciphered, mainly because they were extremely repetitive pieces of DNA that were difficult to nest with the rest.

A consortium of scientists solved this in an analysis revealed in the journal Science. The work was initially made public final 12 months earlier than its official peer review course of.

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“Producing a truly complete human genome sequence represents an unimaginable scientific achievement, offering the most complete view of our DNA blueprint,” Eric Inexperienced, director of the Nationwide Human Genome Analysis Institute (NHGRI), part of the US National Institutes of Health, said in a press release.

“These fundamental data will strengthen the many ongoing efforts to know all the useful nuances of the human genome, which in turn will strengthen genetic research on human disease,” added Inexperienced.

The complete model of the consortium consists of three.055 billion base pairs, the elements from which chromosomes and our genes are built, and 19,969 genes that code for proteins. Among these genes, the researchers recognized about 2,000 new ones. Most of them are disabled, but the 115 should be enabled. Scientists also noticed about 2 million more genetic variants, 622 of which were found in medically related genes.

The consortium was named Telomere to Telomere (T2T), after the constructions discovered at the ends of all chromosomes, the filiform construction in the nucleus of most living cells that carries genetic data in the type of genes.

“Sooner or later, when someone has sequenced their genome, we will establish the entire variants of their DNA and use this data to improve their health care,” Adam Phillippy, one of the many T2T executives and a senior researcher at NHGRI, said in a press release.

“In fact, ending the sequence of the human genome was like putting on a brand new pair of glasses. Now that we are able to see each part clearly, we are one step closer to understanding what it all means,” Phillippy added.

Among the various problems, the new DNA sequences have provided a recent element with regard to the area around the so-called centromere, the place where chromosomes are seized and set aside when cells divide to ensure that each “daughter” cell inherits the right variety of chromosomes.

“Discovering the entire sequence of these previously missing areas of the genome has informed us a lot about their organization, which was completely unknown for many chromosomes,” Nicolas Altemose, a postdoctoral researcher at the College of California, Berkeley, said in a press release.

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Reporting by Will Dunham, assisted by Rosalba O’Brien

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