As part of recent completion of first complete, gapless sequence of a human genome by Telomere- to-Telomere consortium, researchers at UW Medicine offered first comprehensive view of highly identical, large repeat regions, called segmental duplications, and their variation in human genomes. These areas are critical to understanding human evolution and genetic diversity, as well as resistance or susceptibility to many diseases. However, they were the last area of the human genome to be completed because of their complexity. Of particular interest is a gene family related to the expansion of the prefrontal cortex of the brain as humans diverged from other apes. This is the thinking, reasoning, logic and language region. Different humans carry radically different arrangements of this gene family.
