First human ‘pangenome’ aims to catalogue genetic diversity

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First human ‘pangenome’ aims to catalogue genetic diversity
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“This is like going from black-and-white television to 1080p,” says KeoluFox

Credit: Gideon Mendel/Corbis via Getty

More than 20 years after the first draft genome from the landmark Human Genome Project was released, researchers have published a draft human ‘pangenome’ — a snapshot of what is poised to become a new reference for genetic research that captures more of human diversity than has been previously available. Geneticists have welcomed the milestone, while also highlighting key ethical considerations surrounding the effort to make genome research more inclusive.

“This is like going from black-and-white television to 1080p,” says Keolu Fox, a genome scientist at the University of California, San Diego.“It’s something that we have all been waiting for,” says Aimé Lumaka, a geneticist who holds a joint position at the University of Liège in Belgium and the University of Kinshasa in the Democratic Republic of the Congo.

, which filled gaps that had been left by the original Human Genome Project. But unlike the original draft human genome and its successor, both of which were derived mostly from the DNA of just one person, the draft pangenome represents a collection of sequences from a diverse selection of 47 people from around the globe, including individuals from Africa, the Americas, Asia and Europe.

Consent forms signed by the participants at the time of the 1000 Genomes Project cover the reanalysis of their samples and, during a press conference, Kenny and other researchers from the pangenome consortium said that the project was taking further measures to ensure ethical collection and use of the genetic data.

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