May 14, 2023

The Pangenome Breakthrough: A Crystal Clear Image of Human Genomic Diversity

Posted by in categories: biotech/medical, evolution, genetics, health

In a major advance, scientists have assembled genomic sequences of 47 people from diverse backgrounds to create a pangenome, which offers a more accurate representation of human genetic diversity than the existing reference genome. This new pangenome will help researchers refine their understanding of the link between genes and diseases, and could ultimately help address health disparities.

For more than 20 years, scientists have relied on the human reference genome, a consensus genetic sequence, as a standard against which to compare other genetic data. Used in countless studies, the reference genome has made it possible to identify genes implicated in specific diseases and trace the evolution of human traits, among other things.

But it has always been a flawed tool. One of its biggest problems is that about 70 percent of its data came from a single man of predominantly African-European background whose DNA.

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