Article
The landscape of tolerated genetic variation in humans and primates.
Science (New York, N.Y.) - 2 Jun 2023
Gao Hong, Hamp Tobias, Ede Jeffrey, Schraiber Joshua G, McRae Jeremy, Singer-Berk Moriel, Yang Yanshen, Dietrich Anastasia S D, Fiziev Petko P, Kuderna Lukas F K, Sundaram Laksshman, Wu Yibing, Adhikari Aashish, Field Yair, Chen Chen, Batzoglou Serafim, Aguet Francois, Lemire Gabrielle, Reimers Rebecca, Balick Daniel, Janiak Mareike C, Kuhlwilm Martin, Orkin Joseph D, Manu Shivakumara, Valenzuela Alejandro, Bergman Juraj, Rousselle Marjolaine, Silva Felipe Ennes, Agueda Lidia, Blanc Julie, Gut Marta, de Vries Dorien, Goodhead Ian, Harris R Alan, Raveendran Muthuswamy, Jensen Axel, Chuma Idriss S, Horvath Julie E, Hvilsom Christina, Juan David, Frandsen Peter, de Melo Fabiano R, Bertuol Fabrício, Byrne Hazel, Sampaio Iracilda, Farias Izeni, do Amaral João Valsecchi, Messias Mariluce, da Silva Maria N F, Trivedi Mihir, Rossi Rogerio, Hrbek Tomas, Andriaholinirina Nicole, Rabarivola Clément J, Zaramody Alphonse, Jolly Clifford J, Phillips-Conroy Jane, Wilkerson Gregory, Abee Christian, Simmons Joe H, Fernandez-Duque Eduardo, Kanthaswamy Sree, Shiferaw Fekadu, Wu Dongdong, Zhou Long, Shao Yong, Zhang Guojie, Keyyu Julius D, Knauf Sascha, Le Minh D, Lizano Esther, Merker Stefan, Navarro Arcadi, Bataillon Thomas, Nadler Tilo, Khor Chiea Chuen, Lee Jessica, Tan Patrick, Lim Weng Khong, Kitchener Andrew C, Zinner Dietmar, Gut Ivo, Melin Amanda, Guschanski Katerina, Schierup Mikkel Heide, Beck Robin M D, Umapathy Govindhaswamy, Roos Christian, Boubli Jean P, Lek Monkol, Sunyaev Shamil, O'Donnell-Luria Anne, Rehm Heidi L, Xu Jinbo, Rogers Jeffrey, Marques-Bonet Tomas, Farh Kyle Kai-How
Abstract excerpt
Personalized genome sequencing has revealed millions of genetic differences between individuals, but our understanding of their clinical relevance remains largely incomplete. To systematically decipher the effects of human genetic variants, we obtained whole-genome sequencing data for 809 individuals from 233 primate species and identified 4.3 million common protein-altering variants with orthologs in humans. We...
