Washington, May 9 (BNA): For two decades, scientists have compared the entire collection of DNA of each person they study to a template based mostly on genetic material from a man known affectionately as “The Man from Buffalo.”
But they have long known that this model of comparison, or “reference genome,” has serious limitations because it does not reflect the spectrum of human variation, the AP reports.
“We really need a good understanding of the differences and differences between humans,” said Benedict Batten, a genomics expert from the University of California, Santa Cruz. “We’re missing out.”
Now, scientists are building a more diverse repertoire they call the “pangenome,” which so far includes the genetic material of 47 people from different places around the world.
It’s the subject of four studies published Wednesday in the journals Nature and Nature Biotechnology. Scientists say they are already teaching them new things about health and disease and should help patients in the future.
Patten said the new reference should help scientists understand more about what is normal and what is not. “Only by understanding what common variation looks like can we say, ‘Oh, this big structural variation affecting this gene?'” do not worry about that.
The human genome is the set of instructions for building and maintaining a human being, and experts define a pangenome as the set of complete genome sequences from many people designed to represent the genetic diversity of the human species.
The pangenome is not a compound but a group; Scientists picture it as a rainbow of stacked genomes, compared to a single line representing the oldest, most individual reference genome.