{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000151429,0.00002284055,0.00002274661,0.00002531455,0.00007311995,0.00001865362,0.00008970637,0.00001151383,9.80521e-7],"category_scores_gemma":[0.00004495814,0.0000157319,0.000005956936,0.0001791763,0.0001034972,0.000001293837,0.00005245479,0.000008894734,0.000001249542],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001525982,"about_ca_system_score_gemma":0.00005244646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006004108,"about_ca_topic_score_gemma":0.0000195246,"domain_scores_codex":[0.9997124,0.000006437696,0.00005363043,0.00009906069,0.00004814846,0.00008032909],"domain_scores_gemma":[0.9998487,0.000005492659,0.00001760807,0.00008447605,0.00002808331,0.00001566933],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000005032165,0.000005658463,0.02545543,0.000003970167,0.00000119154,6.894387e-7,0.00008690583,0.0001824353,0.9732802,0.00009202487,0.00004218785,0.0008442789],"study_design_scores_gemma":[0.00007591515,0.00003568321,0.9774432,0.000002288687,0.000001176152,7.387387e-7,0.00006908739,0.0008835543,0.02092858,0.0002548434,0.0002757634,0.00002919893],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993663,0.000352962,0.0000107336,0.00005335401,0.00003580884,0.00003756635,0.000002796689,0.000002140262,0.0001383094],"genre_scores_gemma":[0.999607,0.0002688291,0.00004256163,0.00001318408,0.000009364197,0.000002676032,0.000003296601,0.00000146542,0.00005167659],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9523516,"threshold_uncertainty_score":0.06415283,"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."}}