{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.003363066,0.0003424854,0.000532365,0.0009440868,0.0006703834,0.001348657,0.0005571783,0.0007347063,0.00277996],"category_scores_gemma":[0.006207699,0.0002679341,0.0006999263,0.001537014,0.0009059845,0.0007186606,0.001353218,0.001191903,0.0003480145],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003651139,"about_ca_system_score_gemma":0.0005140829,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002778349,"about_ca_topic_score_gemma":0.00457228,"domain_scores_codex":[0.998746,0.0005497534,0.00005108504,0.0003674876,0.0001677796,0.0001179205],"domain_scores_gemma":[0.9940936,0.00385215,0.0007968409,0.0005800512,0.0003153274,0.0003620674],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000685288,0.00009356834,0.8902568,0.0001908619,0.001638192,0.0009267781,0.0005465943,0.003762551,0.02611557,0.008433737,0.002758541,0.06459159],"study_design_scores_gemma":[0.00007228071,0.0002165746,0.9134152,0.0002333719,0.0009846254,0.001032245,0.0006356164,0.01697634,0.006402838,0.04862791,0.01134042,0.00006256401],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9474245,0.01015231,0.03012525,0.005708436,0.0002674644,0.00003491557,0.001766036,0.0001660379,0.004355108],"genre_scores_gemma":[0.9907485,0.001292606,0.006228943,0.0006105118,0.000145038,0.000013966,0.0003655819,0.00002568819,0.0005693011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003363066,"threshold_uncertainty_score":0.01778585,"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."}}