Scientists Unveil a More Diverse Human Genome

More than 20 years after scientists first published the draft sequence of the human genome, the book of life has been given a long-awaited rewrite.

A more accurate and comprehensive version of our genetic code was released Wednesday, a major move toward a deeper understanding of human biology and personalized medicine for people of a wide range of racial and ethnic backgrounds. I showed you a step.

Unlike previous references, which were based primarily on the DNA of a single mixed-race male from Buffalo, based on information from dozens of other individuals, mostly of European descent, the new ” The Pangenome incorporates near-complete gene sequences from 47 males and females of various origins, including African American, Caribbean, East Asian, West African and South American.

The revamped genome map will be an important tool for scientists and clinicians who want to identify genetic variants associated with disease. It also promises to provide treatments that benefit everyone, regardless of race, ethnicity or ancestry, the researchers said.

“It’s been needed for a long time – and they’ve done a very good job. This will improve our detailed understanding of the variations, and the research will open up new opportunities for clinical applications.” .”

Powered by the latest in DNA sequencing technology, PanGenome collates all 47 unique genomes into one resource, providing the most detailed picture ever of the code that makes cells run. Gaps in previous references have now been filled, adding nearly 120 million previously missing DNA characters to his 3 billion character long code.

Gone is the idea of ​​a totem strand of DNA that stretches six feet when uncoiled and straightened out. Now, the rebooted reference resembles a corn maze, with alternate pathways and sideways that allow scientists to explore the wider range of genetic diversity found in people around the world.

Dr. Eric Green, director of the National Human Genome Research Institute, the government agency that funded the study, likens the pangenome to a new kind of bodywork manual for auto repair shops. Previously, every mechanic only had his one kind of car design specs, but now he has a master plan covering different makes and models.

“We had one great blueprint for Chevrolet, and now we have blueprints for 47 representative cars from each of 47 different manufacturers,” he said. said.

Knowing what to do with this Kelly Blue Book of Genomics requires a steep learning curve. We need new analytical tools. You have to redefine the coordinate system. It takes time to spread.

Heidi Rehm, chief genomics officer at Massachusetts General Hospital in Boston, said he wasn’t involved with the project, but said, “Making it easy for the community to use is a challenge going forward. ‘ said.

But experts say pan-genome will eventually revolutionize the field of genomic medicine.

Evan Eichler, a genomics scientist at the University of Washington, said: Dr. Eichler New pan-genome reference described in the journal Nature.

Project designers continue to add more population groups with the goal of including at least 350 high-quality genomes that cover the majority of human diversity on Earth.

“We want to represent every branch of the human tree,” said geneticist Ira Hall, who heads the Yale Center for Genomic Health.

Portions of the new genome will come from New Yorkers who previously participated in the Mount Sinai Health System research program. Those individuals are invited to participate in the Pan Genome Project if their preliminary DNA data appear to reflect a particular underestimated genetic background.

However, some gaps may not be filled by the published references — by design.

Previous attempts to capture human genetic diversity have often extracted sequence data from marginalized populations, regardless of need or preference. Informed by these ethical missteps, the Pangenome Coordinator is now working with indigenous groups to develop formal policies on data ownership.

“We are still grappling with indigenous and tribal sovereignty issues,” said Barbara Koenig, a bioethicist at the University of California, San Francisco, who was involved in the project.

In Australia, researchers are incorporating DNA sequences from various indigenous peoples into similar repositories, combining them with the open-source pangenome, but then storing them behind firewalls. According to Hardip Patel of the National Center for Indigenous Genomics in Canberra, the scientists will next consult with regional leaders about whether and how the data will be made available upon request. It says.

Some indigenous advocates want the pan-genome project to go further. Keol Fox, a genomics scientist at the University of California, San Diego and a Native Hawaiian, suggested training the next generation of indigenous scientists to have greater authority over genomic data.

“It’s finally time to decentralize power and control and redistribute it within the community,” said Dr. Fox.

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