This new genome map tries to capture all human genetic variation
Published in Artificial Intelligence.
The joke about the Human Genome Project is how many times it’s been finished, but not actually.
The first time was in 2000, when Bill Clinton announced the “first survey of the entire human genome” at a White House ceremony, calling it “the most important and most wondrous map ever produced by humankind.”
But the job wasn’t done. A year later, the triumph was announced again, this time with the formal publication of a “draft” of “the genetic blueprint for a human being.” In 2003, researchers had another go at the finish line, claiming the “successful completion” of the project, citing better levels of accuracy. Nineteen years later, in 2022, they again claimed victory, this time for a really, truly “complete” sequence of one genome—end to end, no gaps at all. Pinkie promise.
Today, researchers announced yet another version of the human genome map, which they say combines the complete DNA of 47 diverse individuals—Africans, Native Americans, and Asians, among other groups—into one giant genetic atlas that they say better captures the surprising genetic diversity of our species.
The new map, called a “pangenome,” has been a decade in the making, and researchers say it will only get bigger, creating an expanding view of the genome as they add DNA from another 300 people from around the globe. It was published in the journal Nature today.
“We now understand that having one map of a single human genome cannot adequately represent all of humanity,” says Karen Miga, a professor at the University of California, Santa Cruz, and a participant in the new project.