The landscape of tolerated genetic variation in humans and primates.
Ontology highlight
ABSTRACT:
SUBMITTER: Gao H
PROVIDER: S-EPMC10713091 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature
Publications
The landscape of tolerated genetic variation in humans and primates.
Gao Hong H Hamp Tobias T Ede Jeffrey J Schraiber Joshua G JG McRae Jeremy J Singer-Berk Moriel M Yang Yanshen Y Dietrich Anastasia S D ASD Fiziev Petko P PP Kuderna Lukas F K LFK Sundaram Laksshman L Wu Yibing Y Adhikari Aashish A Field Yair Y Chen Chen C Batzoglou Serafim S Aguet Francois F Lemire Gabrielle G Reimers Rebecca R Balick Daniel D Janiak Mareike C MC Kuhlwilm Martin M Orkin Joseph D JD Manu Shivakumara S Valenzuela Alejandro A Bergman Juraj J Rousselle Marjolaine M Silva Felipe Ennes FE Agueda Lidia L Blanc Julie J Gut Marta M de Vries Dorien D Goodhead Ian I Harris R Alan RA Raveendran Muthuswamy M Jensen Axel A Chuma Idriss S IS Horvath Julie E JE Hvilsom Christina C Juan David D Frandsen Peter P de Melo Fabiano R FR Bertuol Fabrício F Byrne Hazel H Sampaio Iracilda I Farias Izeni I do Amaral João Valsecchi JV Messias Mariluce M da Silva Maria N F MNF Trivedi Mihir M Rossi Rogerio R Hrbek Tomas T Andriaholinirina Nicole N Rabarivola Clément J CJ Zaramody Alphonse A Jolly Clifford J CJ Phillips-Conroy Jane J Wilkerson Gregory G Abee Christian C Simmons Joe H JH Fernandez-Duque Eduardo E Kanthaswamy Sree S Shiferaw Fekadu F Wu Dongdong D Zhou Long L Shao Yong Y Zhang Guojie G Keyyu Julius D JD Knauf Sascha S Le Minh D MD Lizano Esther E Merker Stefan S Navarro Arcadi A Bataillon Thomas T Nadler Tilo T Khor Chiea Chuen CC Lee Jessica J Tan Patrick P Lim Weng Khong WK Kitchener Andrew C AC Zinner Dietmar D Gut Ivo I Melin Amanda A Guschanski Katerina K Schierup Mikkel Heide MH Beck Robin M D RMD Umapathy Govindhaswamy G Roos Christian C Boubli Jean P JP Lek Monkol M Sunyaev Shamil S O'Donnell-Luria Anne A Rehm Heidi L HL Xu Jinbo J Rogers Jeffrey J Marques-Bonet Tomas T Farh Kyle Kai-How KK
Science (New York, N.Y.) 20230602 6648
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 show that these variants can be inferred to have nondeleterious effects in humans ba ...[more]
