{"id":"W4378976943","doi":"10.1126/science.abn8197","title":"The landscape of tolerated genetic variation in humans and primates","year":2023,"lang":"en","type":"article","venue":"Science","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":177,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Université de Montréal","funders":"Agencia Estatal de Investigación; European Regional Development Fund; National Medical Research Council; Natural Environment Research Council; Medical Research Council; National Institute on Aging; Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona; Novo Nordisk Fonden; Instituto de Desenvolvimento Sustentável Mamirauá; Fundação de Amparo à Pesquisa do Estado do Amazonas; Vetenskapsrådet; Ministry of Science and Technology; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Primate Conservation; Vienna Science and Technology Fund; Conselho Nacional de Desenvolvimento Científico e Tecnológico; National Geographic Society; Canada Research Chairs; Council of Scientific and Industrial Research, India; Deutsche Forschungsgemeinschaft; National Institutes of Health; Margot Marsh Biodiversity Foundation; Sight Research UK; National Institute of General Medical Sciences; Centres de Recerca de Catalunya; Department of Biotechnology, Ministry of Science and Technology, India; National Science Foundation; UK Research and Innovation; Instituto de Salud Carlos III; National Research Foundation; Leakey Foundation; Indian Institute of Science; Ministerio de Ciencia e Innovación; European Commission; Broad Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Rufford Foundation; National Research Foundation Singapore; Gordon and Betty Moore Foundation; Generalitat de Catalunya","keywords":"Biology; Genetic variation; Genome; Genetics; Primate; Human genome; Allele; Human genetic variation; DECIPHER; Genetic variants; Evolutionary biology; Computational biology; Personalized medicine; 1000 Genomes Project; Gene; Genotype; Single-nucleotide polymorphism; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001382884,0.0003129361,0.0007703942,0.001770827,0.001056088,0.001694057,0.0005370214,0.0009136651,0.002162945],"category_scores_gemma":[0.005163888,0.0002810782,0.0002655631,0.001526109,0.001761675,0.0009961781,0.001445798,0.0008695335,0.0003660638],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000418557,"about_ca_system_score_gemma":0.0003160359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001507698,"about_ca_topic_score_gemma":0.002481017,"domain_scores_codex":[0.9983303,0.0005754227,0.00007351417,0.0006227932,0.000288255,0.0001097002],"domain_scores_gemma":[0.9983078,0.001011407,0.0002482141,0.0001478543,0.0001161201,0.0001685347],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001202231,0.0001205269,0.5293699,0.0007646884,0.001890919,0.007157307,0.007173126,0.01124119,0.1148503,0.04350636,0.006421412,0.2763021],"study_design_scores_gemma":[0.00006945823,0.0003286806,0.6719412,0.000375576,0.0005334588,0.01149903,0.004476489,0.01562936,0.005988097,0.2269602,0.06202443,0.0001740736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9655649,0.01166415,0.009334864,0.002641792,0.00003774278,0.00001108616,0.001331169,0.0001499326,0.009264264],"genre_scores_gemma":[0.992193,0.002632493,0.002845691,0.0008352274,0.00007819216,0.00002261787,0.0007954684,0.00009298264,0.0005042432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002162945,"threshold_uncertainty_score":0.00731349,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006064220962143797,"score_gpt":0.237983721368874,"score_spread":0.2319195004067302,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}