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.
Diversity in detail
People’s genomes are largely alike, but it’s the hundreds of thousands of differences, often just single DNA letters, that explain why each of us is unique. The new pangenome, researchers say, should make it possible to observe this diversity in more detail than ever before, highlighting so-called evolutionary hot spots as well as thousands of surprisingly large differences, like deleted, inverted, or duplicated genes, that aren’t observable in conventional studies.
The pangenome relies on a mathematical concept called a graph, which you can imagine as a massive version of connect-the-dots. Each dot is a segment of DNA. To draw a particular person’s genome, you start connecting the numbered dots. Each person’s DNA can take a slightly different path, skipping some numbers and adding others.