{"id":"W4313453265","doi":"10.1038/s41586-022-05477-4","title":"Genetic diversity fuels gene discovery for tobacco and alcohol use","year":2022,"lang":"en","type":"article","venue":"Nature","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":508,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Wellcome Trust; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Cancer Institute; National Institute on Alcohol Abuse and Alcoholism; Medical Research Council; National Institute on Drug Abuse; Penn State College of Medicine; National Institutes of Health; Cancer Research UK; University of Pennsylvania; National Institute of Diabetes and Digestive and Kidney Diseases; Pennsylvania State University","keywords":"Genome-wide association study; Genetic architecture; Biology; Polygenic risk score; Genetic diversity; Genetic genealogy; Genetics; Locus (genetics); Evolutionary biology; Genetic association; Computational biology; Quantitative trait locus; Single-nucleotide polymorphism; Gene; Environmental health; Genotype; Medicine; Population","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001616295,0.00009213174,0.0001127032,0.00002419631,0.0004185779,0.00001815325,0.0001397876,0.0003786981,0.00001270215],"category_scores_gemma":[0.0001540676,0.0000927848,0.00007340101,0.00004837499,0.00002925449,0.000003880367,0.000639239,0.0003120613,5.485114e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002031514,"about_ca_system_score_gemma":0.00002981461,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002566929,"about_ca_topic_score_gemma":0.00002684227,"domain_scores_codex":[0.9992741,0.00006742602,0.00009930766,0.0002910878,0.00008052742,0.0001875925],"domain_scores_gemma":[0.9996225,0.00003746193,0.00006275996,0.0001921175,0.00004269809,0.00004244292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001225786,0.00006427921,0.8705587,0.00000923444,0.000134325,0.000003616652,0.00007078998,0.0004658903,0.08048126,0.0001896379,0.04560258,0.002297134],"study_design_scores_gemma":[0.0008064385,0.0002655371,0.8904664,9.920763e-7,0.00005012083,0.00002421967,0.0001005072,0.00005555189,0.002541576,0.0006274803,0.1048383,0.0002229046],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958102,0.002019404,0.0008406942,0.0004896981,0.0002473612,0.00021126,0.0003252719,0.000006187876,0.00004996577],"genre_scores_gemma":[0.9923143,0.0001771267,0.003566282,0.002120354,0.0001631105,0.00004121339,0.0002222686,0.00001093637,0.00138443],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07793968,"threshold_uncertainty_score":0.3783655,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01479401933914894,"score_gpt":0.2586631173980979,"score_spread":0.2438690980589489,"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."}}