<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Gao, Hong</style></author><author><style face="normal" font="default" size="100%">Hamp, Tobias</style></author><author><style face="normal" font="default" size="100%">Ede, Jeffrey</style></author><author><style face="normal" font="default" size="100%">Schraiber, Joshua G</style></author><author><style face="normal" font="default" size="100%">McRae, Jeremy</style></author><author><style face="normal" font="default" size="100%">Singer-Berk, Moriel</style></author><author><style face="normal" font="default" size="100%">Yang, Yanshen</style></author><author><style face="normal" font="default" size="100%">Dietrich, Anastasia S D</style></author><author><style face="normal" font="default" size="100%">Fiziev, Petko P</style></author><author><style face="normal" font="default" size="100%">Kuderna, Lukas F K</style></author><author><style face="normal" font="default" size="100%">Sundaram, Laksshman</style></author><author><style face="normal" font="default" size="100%">Wu, Yibing</style></author><author><style face="normal" font="default" size="100%">Adhikari, Aashish</style></author><author><style face="normal" font="default" size="100%">Field, Yair</style></author><author><style face="normal" font="default" size="100%">Chen, Chen</style></author><author><style face="normal" font="default" size="100%">Batzoglou, Serafim</style></author><author><style face="normal" font="default" size="100%">Aguet, Francois</style></author><author><style face="normal" font="default" size="100%">Lemire, Gabrielle</style></author><author><style face="normal" font="default" size="100%">Reimers, Rebecca</style></author><author><style face="normal" font="default" size="100%">Balick, Daniel</style></author><author><style face="normal" font="default" size="100%">Janiak, Mareike C</style></author><author><style face="normal" font="default" size="100%">Kuhlwilm, Martin</style></author><author><style face="normal" font="default" size="100%">Orkin, Joseph D</style></author><author><style face="normal" font="default" size="100%">Manu, Shivakumara</style></author><author><style face="normal" font="default" size="100%">Valenzuela, Alejandro</style></author><author><style face="normal" font="default" size="100%">Bergman, Juraj</style></author><author><style face="normal" font="default" size="100%">Rousselle, Marjolaine</style></author><author><style face="normal" font="default" size="100%">Silva, Felipe Ennes</style></author><author><style face="normal" font="default" size="100%">Agueda, Lidia</style></author><author><style face="normal" font="default" size="100%">Blanc, Julie</style></author><author><style face="normal" font="default" size="100%">Gut, Marta</style></author><author><style face="normal" font="default" size="100%">de Vries, Dorien</style></author><author><style face="normal" font="default" size="100%">Goodhead, Ian</style></author><author><style face="normal" font="default" size="100%">Harris, R Alan</style></author><author><style face="normal" font="default" size="100%">Raveendran, Muthuswamy</style></author><author><style face="normal" font="default" size="100%">Jensen, Axel</style></author><author><style face="normal" font="default" size="100%">Chuma, Idriss S</style></author><author><style face="normal" font="default" size="100%">Horvath, Julie E</style></author><author><style face="normal" font="default" size="100%">Hvilsom, Christina</style></author><author><style face="normal" font="default" size="100%">Juan, David</style></author><author><style face="normal" font="default" size="100%">Frandsen, Peter</style></author><author><style face="normal" font="default" size="100%">de Melo, Fabiano R</style></author><author><style face="normal" font="default" size="100%">Bertuol, Fabrício</style></author><author><style face="normal" font="default" size="100%">Byrne, Hazel</style></author><author><style face="normal" font="default" size="100%">Sampaio, Iracilda</style></author><author><style face="normal" font="default" size="100%">Farias, Izeni</style></author><author><style face="normal" font="default" size="100%">do Amaral, João Valsecchi</style></author><author><style face="normal" font="default" size="100%">Messias, Mariluce</style></author><author><style face="normal" font="default" size="100%">da Silva, Maria N F</style></author><author><style face="normal" font="default" size="100%">Trivedi, Mihir</style></author><author><style face="normal" font="default" size="100%">Rossi, Rogerio</style></author><author><style face="normal" font="default" size="100%">Hrbek, Tomas</style></author><author><style face="normal" font="default" size="100%">Andriaholinirina, Nicole</style></author><author><style face="normal" font="default" size="100%">Rabarivola, Clément J</style></author><author><style face="normal" font="default" size="100%">Zaramody, Alphonse</style></author><author><style face="normal" font="default" size="100%">Jolly, Clifford J</style></author><author><style face="normal" font="default" size="100%">Phillips-Conroy, Jane</style></author><author><style face="normal" font="default" size="100%">Wilkerson, Gregory</style></author><author><style face="normal" font="default" size="100%">Abee, Christian</style></author><author><style face="normal" font="default" size="100%">Simmons, Joe H</style></author><author><style face="normal" font="default" size="100%">Fernandez-Duque, Eduardo</style></author><author><style face="normal" font="default" size="100%">Kanthaswamy, Sree</style></author><author><style face="normal" font="default" size="100%">Shiferaw, Fekadu</style></author><author><style face="normal" font="default" size="100%">Wu, Dongdong</style></author><author><style face="normal" font="default" size="100%">Zhou, Long</style></author><author><style face="normal" font="default" size="100%">Shao, Yong</style></author><author><style face="normal" font="default" size="100%">Zhang, Guojie</style></author><author><style face="normal" font="default" size="100%">Keyyu, Julius D</style></author><author><style face="normal" font="default" size="100%">Knauf, Sascha</style></author><author><style face="normal" font="default" size="100%">Le, Minh D</style></author><author><style face="normal" font="default" size="100%">Lizano, Esther</style></author><author><style face="normal" font="default" size="100%">Merker, Stefan</style></author><author><style face="normal" font="default" size="100%">Navarro, Arcadi</style></author><author><style face="normal" font="default" size="100%">Bataillon, Thomas</style></author><author><style face="normal" font="default" size="100%">Nadler, Tilo</style></author><author><style face="normal" font="default" size="100%">Khor, Chiea Chuen</style></author><author><style face="normal" font="default" size="100%">Lee, Jessica</style></author><author><style face="normal" font="default" size="100%">Tan, Patrick</style></author><author><style face="normal" font="default" size="100%">Lim, Weng Khong</style></author><author><style face="normal" font="default" size="100%">Kitchener, Andrew C</style></author><author><style face="normal" font="default" size="100%">Zinner, Dietmar</style></author><author><style face="normal" font="default" size="100%">Gut, Ivo</style></author><author><style face="normal" font="default" size="100%">Melin, Amanda</style></author><author><style face="normal" font="default" size="100%">Guschanski, Katerina</style></author><author><style face="normal" font="default" size="100%">Schierup, Mikkel Heide</style></author><author><style face="normal" font="default" size="100%">Beck, Robin M D</style></author><author><style face="normal" font="default" size="100%">Umapathy, Govindhaswamy</style></author><author><style face="normal" font="default" size="100%">Roos, Christian</style></author><author><style face="normal" font="default" size="100%">Boubli, Jean P</style></author><author><style face="normal" font="default" size="100%">Lek, Monkol</style></author><author><style face="normal" font="default" size="100%">Sunyaev, Shamil</style></author><author><style face="normal" font="default" size="100%">O&#039;Donnell-Luria, Anne</style></author><author><style face="normal" font="default" size="100%">Rehm, Heidi L</style></author><author><style face="normal" font="default" size="100%">Xu, Jinbo</style></author><author><style face="normal" font="default" size="100%">Rogers, Jeffrey</style></author><author><style face="normal" font="default" size="100%">Marques-Bonet, Tomas</style></author><author><style face="normal" font="default" size="100%">Farh, Kyle Kai-How</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The landscape of tolerated genetic variation in humans and primates.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Base Sequence</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Primates</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Genome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2023</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2023 Jun 02</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">https://www.science.org/doi/full/10.1126/science.abn8197?rfr_dat=cr_pub++0pubmed&amp;url_ver=Z39.88-2003&amp;rfr_id=ori%3Arid%3Acrossref.org</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">380</style></volume><pages><style face="normal" font="default" size="100%">eabn8153</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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 based on their presence at high allele frequencies in other primate populations. We use this resource to classify 6% of all possible human protein-altering variants as likely benign and impute the pathogenicity of the remaining 94% of variants with deep learning, achieving state-of-the-art accuracy for diagnosing pathogenic variants in patients with genetic diseases.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">6648</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;https://www.ncbi.nlm.nih.gov/pubmed/37262156?dopt=Abstract&lt;/p&gt;
</style></custom1></record></records></xml>