But the work was not 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, the researchers returned to the goal, claiming “successful completion” of the project, citing better levels of accuracy. Nineteen years later, in 2022, they claimed victory again, this time for a really, really “complete” sequence of a genome, end-to-end, with no gaps. Pinkie Promise
Today, researchers announced 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 a giant genetic atlas they say better captures the amazing genetics diversity of our species.
The new map, called the “pangenome,” has been a decade in development, and the researchers say it will only get bigger, creating an expanding view of the genome as they add DNA from another 300 people around the world. It was published today in the journal Nature.
“We now understand that having a 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 retail
People’s genomes are very similar, but it’s the hundreds of thousands of differences, often just letters of DNA, that explain why each of us is unique. The new pangenome, the researchers say, should allow this diversity to be observed in greater detail than ever before, highlighting so-called evolutionary hotspots, as well as thousands of surprisingly large differences, such as deleted, inverted or duplicated genes, that are… t observable in conventional studies.
The pangenome is based on a mathematical concept called a graph, which you can think of as a massive version of connect-the-dots. Each dot is a segment of DNA. To draw the genome of a particular person, start connecting the numbered dots. Each person’s DNA may take a slightly different path, skipping some numbers and adding others.
