Unpublished: scientists reveal a more precise and diverse version of the human genome

More than 20 years after scientists first published a draft sequence of the human genome, the book of life has been rewritten, subject to a long-overdue reissue.

A more precise and inclusive edition of our genetic code was published this year, marking an important step toward a deeper understanding of human biology.here is personalized medicine for people from a wide range of racial and ethnic backgrounds.

Unlike the previous reference—which relied heavily on the DNA of a mixed-race man from Buffalo, New York, with input from a few dozen other people, mostly of European descent—the new “pangenome” incorporates sequences nearly complete genetics of 47 men and women of diverse origins, including African Americans, Caribbean Islanders, East Asians, South Americans, and West Africans.

The renewed genome map represents a crucial tool for experts hoping to identify genetic variations associated with diseases. It also promises to provide treatments that can benefit all people, regardless of race, ethnicity or ancestry, the researchers said.

Powered by the latest in DNA sequencing technology, Pangenome compiles all 47 unique genomes into a single resource, providing the most detailed picture yet of the code that powers our cells.

The idea of ​​a strand of DNA that extends about 2 meters when it is uncoiled and arranged in a straight line is gone. The reference now resembles a maze, with alternating paths and side trails that allow scientists to explore a broader range of genetic diversity found in people around the world.

Knowing what to do with this information will involve a steep learning curve. New analytical tools are needed. Coordinate systems must be redefined. Widespread adoption will take time. But in due time, experts said, the pangenome will revolutionize the field of genomic medicine.

Experts continue to add more clusters, with the goal of including at least 350 high-quality genomes covering most of global human diversity.

Some gaps may never be filled in the publicly available reference, intentionally.

Previous attempts to capture human genetic diversity often extracted sequence data from marginalized populations without taking into account their needs and preferences. Pangenome coordinators are now working with indigenous groups to develop formal policies on data ownership.

We are still grappling with the issue of native and tribal sovereignty”said Barbara Koenig, a bioethicist at the University of California, San Francisco, who participated in the project.

Some Indigenous advocates want the pangenome project to go further. Keolu Fox, a genomics scientist at the University of California, San Diego, and a native of Hawaii, has suggested training the next generation of indigenous scientists to have greater influence over genomic data.

“It’s finally time for us to decentralize power and control and redistribute it among the communities themselves,” Fox said.

ELIE DOLGIN. THE NEW YORK TIMES

BBC-NEWS-SRC: http://www.nytsyn.com/subscribed/stories/6725616, IMPORTING DATE: 2023-05-22 22:10:07

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