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Major gene study offers new insights into human diversity

Friday March 20th, 2020

British scientists have unveiled the most "detailed representation to date" of the diversity of the human genome.

The work offers new insights into human evolution as well as new windows into genetic susceptibility to disease, according to the researchers at the Wellcome Sanger Institute and Cambridge University, UK.

Researchers studied 929 genomes from 54 diverse groups of people around the globe – finding millions of previously unknown DNA variations linked to human settlements.

The researchers say no DNA variation was found to be exclusive to one major geographical region, being found in the whole population from that region but not in any other.

The study suggests that most human diversity began about 250,000 years ago – with some signs of small parts of human ancestry being linked to much older groups.

The research backs the theory that there was only one mixing between Homo sapiens and Neanderthals – but at least two involving the Denisovans.

The findings were published in Science last night.

Researcher Dr Anders Bergström, of the Francis Crick Institute and formerly of the Wellcome Sanger Institute, said: "The detail provided by this study allows us to look deeper into human history, particularly inside Africa where less is currently known about the timescale of human evolution.

"We find that the ancestors of present-day populations diversified through a gradual and complex process mostly during the last 250,000 years, with large amounts of gene flow between these early lineages. But we also see evidence that small parts of human ancestries trace back to groups that diversified much earlier than this."

Hélène Blanché, of the Centre d'Etude du Polymorphisme Humain, Paris, France, said: "The Human Genome Diversity Project resource has facilitated many new discoveries about human history in the past two decades. It is exciting to see that with the latest genomic sequencing technology, these genomes will continue to help us understand our species and how we have evolved."

Insights into human genetic variation and population history from 929 diverse genomes. Science 19 March 2020

https://doi.org/10.1126/science.aay5012

Tags: Genetics | UK News | World Health

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