On Jan. 24, 2019, scientists at deCODE genetics in Iceland, a subsidiary of Amgen, published the first genetic map of the human genome developed using whole-genome sequence data. The map provides the most detailed view to date of the location, rate and connection between two key drivers of human evolution: recombination – the reshuffling of the genome that occurs in the formation of eggs and sperm; and de novo mutation – the appearance in every one of our genomes of dozens of usually small variations that we did not inherit from either of our parents.

Together these processes guarantee that every person is a unique version of our species, but de novo mutations are also a principal cause of rare diseases of childhood. The study appeared in the online edition of Science.