{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004349482,0.0003723258,0.0003067723,0.001077003,0.0003617149,0.0005760649,0.0004097184,0.0008522568,0.004113614],"category_scores_gemma":[0.001851774,0.0002684419,0.0004144279,0.00144185,0.0004976167,0.0003499687,0.000333771,0.0006495456,0.0003747822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001623383,"about_ca_system_score_gemma":0.0001597319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002178638,"about_ca_topic_score_gemma":0.002318633,"domain_scores_codex":[0.9993818,0.0001804752,0.00007467013,0.0001756452,0.0001198867,0.00006747981],"domain_scores_gemma":[0.99854,0.0006760681,0.0004406663,0.0001401249,0.00008694282,0.0001162392],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001361838,0.00009101289,0.9411427,0.00008143573,0.0006260151,0.001359975,0.0002506613,0.0003977762,0.03187336,0.001710145,0.0007054585,0.02039967],"study_design_scores_gemma":[0.00003700347,0.0001473261,0.9898546,0.00002121023,0.0002566669,0.00272214,0.0001615709,0.0008112375,0.002797421,0.002005613,0.001169332,0.00001586535],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931595,0.001736324,0.00166719,0.0003374335,0.00006046642,0.000005849693,0.0009458324,0.00005562911,0.002031646],"genre_scores_gemma":[0.9982007,0.000261967,0.0004874893,0.00006407734,0.00005779499,0.000002985873,0.0002246433,0.00001208573,0.0006882054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004113614,"threshold_uncertainty_score":0.0137614,"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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