Tomàs Marquès Bonet & Arcadi Navarro

Universitat Pompeu Fabra

In June 2023, we published 5 papers in Science in a Special Issue. In there, we present the best effort to capture genomic variants of primates to understand evolutionary questions, conservation and the foundation of genetics of human diseases. Still today, the interpretation of the human genome remains one of the most colossal challenges we face as biologists. Reading genomes is easy, but predicting the implications of a single change in the human genome is still complicated. And this task is crucial, because there lies the biological bases of who we are and our diseases.

In order to contribute to these questions, we led this set of studies. The 5 studies in Science have been generated with the data of this project, where more than 50% of all primates on earth have been sequenced in a single effort. But far from being the only a database, the articles define the bases of who we are as a species, while reporting the group of 80 human specific genes with aminoacid changes (reducing by 55% what we knew before). Also, by using this data we developed an algorithm that helps us to find mutations linked to diseases, with the reasoning that if a candidate mutation is also found in genomes of other primates, it is less likely to be disruptive to our biology.