Clearest Snapshot Yet of Human Genomic Diversity Is Revealed in New Nature Article

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 was sequenced during the Human Genome Project, the first effort to capture all of a person’s DNA. As a result, it can tell us little about the 0.2 to 1 percent of genetic sequence that makes each of the seven billion people on this planet different from each other, creating an inherent bias in biomedical data believed to be responsible for some of the health disparities affecting patients today. Many genetic variants found in non-European populations, for instance, aren’t represented in the reference genome at all. For years, researchers have called for a resource more inclusive of human diversity with which to diagnose diseases and guide medical treatments. Now scientists with the Human Pangenome Reference Consortium have made ground-breaking progress in characterizing the fraction of human DNA that varies between individuals. As they published on May 10, 2023 in Nature, they’ve assembled genomic sequences of 47 people from around the world into a so-called “pangenome” in which more than 99 percent of each sequence is rendered with high accuracy. The open-access article is titled “A Draft Human Pangenome Reference.”

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