A new version of the human reference genome incorporates genetic data from 47 individuals from around the globe, deepening scientists' view into how genes work.
Scientists have published the first human"pangenome" — a full genetic sequence that incorporates genomes from not just one individual, but 47.
"Rather than using a single genome sequence as our coordinate system, we should instead have a representation that is based on the genomes of many different people so we can better capture genetic diversity in humans," Melissa Gymrek , a genetics researcher at the University of California, San Diego, who was not involved in the project, told Live Science.
Geneticists use the reference genome as a guide when sequencing pieces of people's genetic codes, Arya Massarat , a doctoral student in Gymrek's lab who co-authored an editorial about the new research with her in the journal Nature, told Live Science. They match the newly decoded DNA snippets to the reference to figure out how they fit within the genome as a whole.
"It really is understanding and cataloging these differences between genomes that allow us to understand how cells operate and their biology and how they function, as well as understanding genetic differences and how they contribute to understanding human disease," study co-author Karen Miga , a geneticist at the University of California, Santa Cruz, said at a press conference held May 9.
The new study also used advanced sequencing technology called"long-read sequencing," as opposed to the short-read sequencing that came before. Short-read sequencing is what happens when you send your DNA to a company like 23andMe, Eichler said. Researchers read out small segments of DNA and then stitch them together into a whole. This kind of sequencing can capture a decent amount of genetic variation, but there can be poor overlap between each DNA fragment.
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