Human Genome Reference Map Updated To Better Model Diversity
News outlets report that scientists have unveiled the human "pangenome," a new reference map for the human genome that better reflects the rich diversity of the global population. Separately, a breakthrough resulted in the first babies being born in Britain with DNA from three people.
Reuters:
Human Genome Reboot Better Reflects Global Population
Scientists on Wednesday unveiled a new accounting of the human genome that improves on its predecessor by including a rich diversity of people to better reflect the global population - a boost to ongoing efforts to identify genetic underpinnings of diseases and new ways to treat them. This "pangenome" achievement was announced two decades after the first sequencing of the human genome, a feat that transformed biomedical research by giving scientists a reference map to analyze DNA for clues about disease-related mutations. (Dunham, 5/10)
AP:
DNA Project Gives Scientists Diverse Genome For Comparison
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.” But 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. (Ungar, 5/10)
The Washington Post:
Scientists Unveil The Human Pangenome, A More Diverse Genetic Blueprint
The pangenome, unveiled in the journal Nature, is based on the full genetic blueprints of 47 people who were sequenced between 2008 and 2015 for another study, including some of African, Asian, Caribbean, American and European ancestries. Scientists hope to expand the new tool over the next two years to incorporate 350 genetic blueprints from around the world. While the human genome is like a single road, the pangenome resembles a subway map, converging in parts of the sequence that are common to most people and branching out in areas where we differ. (Johnson, 5/10)
Also —
AP:
1st Babies Born In Britain Using DNA From 3 People
Britain’s fertility regulator on Wednesday confirmed the births of the U.K.’s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic diseases. The Human Fertilization and Embryology Authority said fewer than five babies have been born this way in the U.K. but did not provide further details to protect the families’ identities. The news was first reported by the Guardian newspaper. (Cheng, 5/10)
