A collection of DNA that represents the genetic information from 47 individuals, the pangenome dramatically expands upon the original human genome reference.
New research combines genetic material from a population of 47 genetically diverse individuals to provide a more complete image of the human genome.Researchers have constructed a rough draft of a human pangenome, a collection of DNA that represents the genetic information from 47 individuals. The development — a landmark in genomics — magnifies and expands scientists’ view of the code that makes us both uniquely human and different from one another.
The pangenome dramatically expands upon the original human genome reference, which scientists have been using for about two decades. That original reference came largely from a single person, which limits its effectiveness. The new pangenome could help scientists identify influential genetic differences that have flown under the radar because of limitations of the old reference sequence. Researchers behind the project say it has the potential to contribute to personalized, precision medicine — the development of medical care that’s tailored to an individual’s genetic makeup.
To build the pangenome, scientists used data from the 1000 Genomes Project, which included participants from across ethnic groups. The data is anonymous, meaning that some steps have been taken to protect the identities of those whose DNA is on display. The scientists said the 47 people used in this project represent a diverse geographic distribution across different human populations.
In the immediate future, the consortium expects that the expanded scope of the reference will help scientists better study particular genes.
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