The researchers found that the pangenome enabled them to identify twice as many structural variants - large genomic alterations such as gene duplications or deletions - per person than is possible using the original, linear reference genome. Genetic Tube mapĮimear Kenny, a geneticist at the Icahn School of Medicine at Mount Sinai in New York City, and her colleagues aligned all these sequences computationally to form a ‘pangenome graph’ - conceptually similar to a London Underground map, in which branching paths indicate genetic variation. But unlike the original draft 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. The draft pangenome follows the 2022 publication of the first complete sequence of the human genome 2, which filled gaps that had been left by the original Human Genome Project. Such a reference would aid studies investigating potential links between genes and disease. Launched in 2019, the international project aims to map the entirety of human genetic variation, to create a comprehensive reference against which geneticists will be able to compare other sequences. The draft genome, published in Nature on 10 May 1, was produced by the Human Pangenome Reference Consortium. “The current reference genome is missing not only part of the genomic information but, most importantly, it’s missing diversity,” he says. “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. “This is like going from black-and-white television to 1080p,” says Keolu Fox, a genome scientist at the University of California, San Diego.Ī more-inclusive genome project aims to capture all of human diversity Geneticists have welcomed the milestone, while also highlighting key ethical considerations surrounding the effort to make genome research more inclusive. More than 20 years after the release of the first draft genome from the landmark Human Genome Project, 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. The human pangenome represents a collection of genetic sequences from a diverse cohort of people.
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