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New Study Addresses Long-standing Diversity Bias In Human Genetics

Most research in human genetics has historically focused on people of European ancestries—a long-standing bias that may limit the accuracy of scientific predictions for people from other populations.

Now, a team of Johns Hopkins University scientists has generated a new catalog of human gene expression data from around the world. The increased representation of understudied populations should empower researchers to attain more accurate insights into genetic factors driving human diversity, including for traits such as height, hormone levels, and disease risk.

The work deepens the scientific field’s understanding of gene expression in populations of Latin America, South and East Asia, and other regions for which limited data existed.

Published today in Nature, the findings may improve future studies of human variation and evolution.

“We now have this global view of how gene expression contributes to the world’s diversity, the broadest picture to date in populations that have been poorly represented in previous studies,” said senior author Rajiv McCoy, a Johns Hopkins geneticist. “We’re trying to better understand the connection between variation at the level of our DNA and variation at the level of our traits, which previous genetic studies have looked at but with a really persistent bias that often excludes non-European ancestry populations.”

You can read more in an article by Roberto Molar Candanosa published in the Johns Hopkins Magazine’s web site at: https://hub.jhu.edu/2024/07/17/diversity-bias-genetics/.