A significant amount of human genetic material turns out to be long, repetitive sections. Although every human has some repeats, not everyone has the same number of them. And the difference in the number of repeats is where most of human genetic variation is found.
This insight—that the repeats are important—is one of many significant findings from the Telomere-2-Telomere (T2T) project, a globe spanning collaboration that filled in the missing sections of the original human genome assembly. Geneticist Rachel O’Neill, director of UConn’s Institute for Systems Genomics and a professor in the Department of Molecular and Cell Biology, is a principal investigator on the project and an author on four of six primary papers.