for two decades, scientists compare the complete set of DNA of every person they study against a template that relies heavily on the genetic material of one person, affectionately known as the “Buffalo Kid.”

But they have long known that this template for comparison, or “reference genome”, has serious limitations because it does not reflect the spectrum of human diversity.

“We need a really good understanding of the variation, the differences between people,” said genomics expert Benedict Paten of the University of California, Santa Cruz. “We’re missing out.”

Scientists are now building a much more diverse benchmark, which they call the “pangenome”, which currently includes the genetic material of 47 people from different parts of the world. This is the subject of four studies published Wednesday in journals. Nature another natural biotechnology. Scientists say it is already teaching them new things about health and disease and should help patients in the future.

Paten said the new link should help scientists better understand what is normal and what is not. “Only by understanding what the overall variation looks like can we say, ‘Oh, this big structural variation that affects this gene? Don’t worry about it,” he said.

The human genome is a set of instructions for building and maintaining a human being, and experts define a pangenome as a set of complete sequences of the genomes of many people, designed to represent the genetic diversity of the human species. The pangenome is not a composite, but an aggregate; scientists depict it as a rainbow of stacked genomes compared to a single line representing an older, single reference genome.

The Human Pangenome Project builds on the first full human genome sequencing that was nearly completed over two decades ago and finally completed last year. Paten, author of the pangenome study and project leader, said that 70% of this first reference genome came from an African American of mixed African and European ancestry who responded to an advertisement for volunteers in a Buffalo newspaper in 1997. About 30% came from the mixture. numbering about 20 people.

Pangenome contains material from 24 people of African descent, 16 from the Americas and the Caribbean, six from Asia, and one from Europe.

Although the genomes of any two people are more than 99% identical, Paten said that “it is these differences that are what genetics and genomics study and understand.”

It may take some time for patients to see the specific benefits of the study. But scientists say the new ideas should eventually make genetic testing more accurate, improve drug discovery, and support personalized medicine that uses someone’s unique genetic profile to make decisions about disease prevention, diagnosis, and treatment.

“The Pangenome project provides a more accurate picture of the genome of people from all over the world,” and doctors should help better diagnose genetic diseases, said clinical genetics expert Dr. Wendy Chang of Columbia University, who was not involved in the study.

If someone has a variation of a certain gene, it can be likened to a rainbow of mentions.

Study author Evan Eichler of the University of Washington said researchers will also learn more about genes already linked to problems, such as the gene linked to cardiovascular disease in African Americans.

“Now that we can fully sequence this gene and understand the variations in this gene, we can start going back to the unexplained cases of patients with coronary artery disease” and look at them in the light of new knowledge. he said. Eichler is paid by the Howard Hughes Medical Institute, which is also supported by the Associated Press Health and Science Department.

University of Minnesota plant genetics expert Candace Hirsch, who was not involved in the study but closely followed it, said she expects many discoveries to come from it. So far, “we’ve really only been able to scratch the surface of the underlying genetics of the disease,” she said.

The consortium leading the study is part of the Human Genome Reference Program, which is funded by a division of the US National Institutes of Health.

The team is in the process of adding to its collection of reference genomes with the goal of obtaining sequences from 350 individuals by the middle of next year. Scholars also hope to work more with international partners, including those working on indigenous peoples.

“We are set for the long game,” Paten said.

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