{"id":"W2584469054","doi":"10.1038/nature21039","title":"Rare and low-frequency coding variants alter human adult height","year":2017,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":654,"is_retracted":false,"has_abstract":false,"ca_institutions":"Memorial University of Newfoundland; Université de Montréal; Dalhousie University; Montreal Heart Institute","funders":"Institute of Genetics; Carolina Population Center, University of North Carolina at Chapel Hill; National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; Netherlands Heart Institute; NIHR Oxford Biomedical Research Centre; Helmholtz Zentrum München; National Heart, Lung, and Blood Institute; Biotechnology and Biological Sciences Research Council; Social Science Research Institute, Duke University; School of Medicine, Stanford University; National Institutes of Health; Hjartavernd; Steno Diabetes Center Copenhagen; Tays; Novo Nordisk Fonden; National Institute of Mental Health; Syddansk Universitet; Università di Pisa; Terveyden ja hyvinvoinnin laitos; Menzies Institute for Medical Research; British Heart Foundation; Háskóli Íslands; Region Hovedstaden; National Institute of General Medical Sciences; Leids Universitair Medisch Centrum; Universitetet i Bergen; Tampereen Yliopisto; Lunds Universitet; National Cancer Institute; University College London; Lundbeckfonden; Aalborg Universitet; University of Glasgow; Universiteit Leiden; University of North Carolina at Chapel Hill; Harvard University; Science for Life Laboratory; National Human Genome Research Institute; Rigshospitalet; University of Texas Health Science Center at Houston; Università degli Studi dell'Insubria; Menzies Research Institute Tasmania; University of Aberdeen; Gentofte Hospital; University of Exeter; University of Southern California; Wellcome Trust; Sidra Medicine; National Eye Institute; National Institute for Health and Care Research; Umeå Universitet; Helsingin Yliopisto; Imperial College London; University of Tasmania; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Haukeland Universitetssjukehus; United Kingdom Clinical Research Collaboration; Erasmus Medisch Centrum; European Hematology Association; Université de Toulouse; University of Oxford; Norges Teknisk-Naturvitenskapelige Universitet; Medical Research Council; Uppsala Universitet; University of California, Los Angeles; University of Washington; Doris Duke Charitable Foundation","keywords":"Biology; Genetics; Allele; Gene; Quantitative trait locus; Genome-wide association study; Genetic association; Phenotype; Minor allele frequency; Allele frequency; Human genome; Coding region; Genome; Single-nucleotide polymorphism; Genotype","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":[0.0001377285,0.0001038424,0.0001242594,0.00001580601,0.0004138193,0.0000401314,0.0002124948,0.0009649033,0.00002458625],"category_scores_gemma":[0.0003957491,0.00009057618,0.00004298421,0.00001178886,0.00006353288,0.000003893509,0.0001182748,0.0004028223,0.000005799809],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007189008,"about_ca_system_score_gemma":0.00002008054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002376095,"about_ca_topic_score_gemma":0.00008213715,"domain_scores_codex":[0.9993293,0.00003871963,0.0001180364,0.0002683665,0.00005530089,0.0001903211],"domain_scores_gemma":[0.9993004,0.000008081462,0.0001207661,0.0004176648,0.00009584674,0.00005729475],"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":[0.0000166694,0.00004535683,0.3693819,0.0000352859,0.0001073437,0.00001463474,0.00007176487,0.000002258676,0.5904305,0.0057246,0.03228189,0.001887781],"study_design_scores_gemma":[0.000823372,0.000113562,0.9772871,0.0000321345,0.00002582546,0.00002377634,0.00002754712,0.00004320182,0.01294839,0.00305622,0.005343518,0.0002753975],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9903497,0.000793956,0.00008483409,0.001496402,0.0002451971,0.00008089881,0.0000285986,0.000006627669,0.006913865],"genre_scores_gemma":[0.9962671,0.0002034412,0.0008435295,0.001226761,0.0003658984,0.000006677385,0.00008580973,0.00001118874,0.0009895441],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6079051,"threshold_uncertainty_score":0.7442218,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008636381850944242,"score_gpt":0.2837273913334581,"score_spread":0.2750910094825139,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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