The pangenome is not a composite but a collection scientists depict it as a rainbow of stacked genomes, compared with one line representing the older, single reference genome. “It is only by understanding what common variation looks like that we’ll be able to say, ‘Oh, this big structural variation that affects this gene? Don’t worry about it,’” he said.Ī human genome is the set of instructions to build and sustain a human being, and experts define a pangenome as a collection of whole genome sequences from many people that is designed to represent the genetic diversity of the human species. Paten said the new reference should help scientists understand more about what’s normal and what’s not. Scientists say it's already teaching them new things about health and disease and should help patients down the road. It’s the subject of four studies published Wednesday in the journals Nature and Nature Biotechnology. Now, scientists are building a much more diverse reference that they call a “pangenome," which so far includes the genetic material of 47 people from various places around the world. “We need a really good understanding of the variations, the differences between human beings,” said genomics expert Benedict Paten of the University of California, Santa Cruz. For two decades, scientists have been comparing every person’s full set of DNA they study to a template that relies mostly on genetic material from one man affectionately known as “the guy from Buffalo.”īut they've long known that this template for comparison, or “reference genome,” has serious limits because it doesn't reflect the spectrum of human diversity.
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