The first “pangenome,” representing individuals with ancestry from across the globe, could improve the genetic testing for various diseases and even provide new insights into human evolution and biology.
What are your chances of getting coronary heart disease? What cancer treatment will you respond best to? The answers likely lie in your DNA. But it’s notDNA scientists base their studies on. Instead, they look at a “reference” genome—one assembled from bits and pieces of genetic material from a few people of mostly European and African ancestry.
“It’s an exceptional advance,” says Mashaal Sohail, an evolutionary geneticist at the National Autonomous University of Mexico who was not involved in the project. “It’s making the picture of human genetic variation more accurate and more complete.”, it wasn’t quite finished. It was missing about 8% of its genetic alphabet, which was hard to read with the sequencing technology of the time.
What’s more, because both GRCh38 and T2T-CHM13 are mainly built from individuals of mostly European ancestry, medical tools that use them as a referenceof non-European descent. Biological markers that help predict certain kinds of cancer might be more accurate in people from particular parts of the globe, for example, and a genetic marker that helps gauge a person’s risk of coronary heart disease may be vastly underestimating the risk in Black people.
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