Back to highlights 2023

Special Issue in Science about Primate Genomics

Marquès Bonet, Tomàs (UPF)

Life & Medical Sciences

Navarro i Cuartiellas, Arcadi (UPF)

Life & Medical Sciences

In June 2023, we published 5 papers in Science in a Special Issue. In there, we present the besteffort to capture genomic variants of primates to understandevolutionary questions, conservation and the foundation ofgenetics of human diseases. Still today,the interpretation of the human genome remains oneof the most colossal challenges we face as biologists. Readinggenomes is easy, but predicting the implications of a single change in thehuman genome is still complicated. And this task iscrucial, because there lies the biological bases of who we are and ourdiseases.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 onlya database, the articles define the bases ofwho we are as a species, while reporting the group of 80 human specific genes with aminoacid changes(reducing by 55% what we knewbefore). Also, by usingthis data we developed an algorithm that helps us to findmutations linked to diseases, with the reasoning that if acandidate mutation is also found in genomes of other primates, it is lesslikely to be disruptive to our biology.

Cover of the Special Issue


REFERENCE

Kuderna LFK, Gao H, Janiak MC, et al. 2023, 'A global catalog of whole-genome diversity from 233 primate species', Science, 380, 6648, 906 - 912.

Sørensen EF, Harris RA, Zhang L, et al. 2023, 'Genome-wide coancestry reveals details of ancient and recent male-driven reticulation in baboons', Science, 380, 6648, eabn8153.

Gao H, Hamp T, Ede J, et al. 2023, 'The landscape of tolerated genetic variation in humans and primates', Science, 380, 6648, eabn8197.

Fiziev PP, McRae J, Ulirsch JC, et al. 2023, 'Rare penetrant mutations confer severe risk of common diseases', Science, 380, 6648, eabo1131.

Shao, Y et al. 2023, 'Phylogenomic analyses provide insights into primate evolution', Science, 380 - 6648 - 913 - 924.