![]() ![]() ![]() While it's still a work in progress, the pangenome is public and can be used by scientists around the world as a new standard human genome reference, says The Rockefeller University's Erich D. Layered upon each other, these sequences revealed nearly 120 million DNA base pairs that were previously unseen. As they recently published 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. ![]() Now scientists with the Human Pangenome Reference Consortium have made groundbreaking progress in characterizing the fraction of human DNA that varies between individuals. ![]() Many genetic variants found in non-European populations, for instance, aren't represented in the reference genome at all.įor years, researchers have called for a resource more inclusive of human diversity with which to diagnose diseases and guide medical treatments. As a result, it can tell us little about the 0.2 to one 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. 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. ![]()
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