To gain a clearer picture of health and disease, scientists have now provided an independent reference for all human variation by looking through the evolutionary lens of our nearest relatives. Such a powerful approach has been developed by Temple University professor Sudhir Kumar and colleagues and was detailed in the advanced online publication of Molecular Biology and Evolution. “There are two ways to generate a map of the human genome variation: one is to get genomes of all the humans and build a compilation as the 1,000 Genomes Project and others have undertaken,” said Kumar, a Temple University professor and director of the Institute for Genomics and Evolutionary Medicine (iGEM). “The alternative, which is the basis of our approach, is to compile all genome data from other species and predict what the human sequence reference should be.”
By observing evolution’s “greatest hits” (and misses) and the history of the major themes and patterns of genome conservation (and divergence) across many species, Kumar’s approach predicts probable mutations that will be found among people and the fate of human variation.