{"id":"W2905226148","doi":"10.1016/j.biopsych.2018.11.024","title":"Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use","year":2018,"lang":"en","type":"review","venue":"Biological Psychiatry","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Science Foundation Graduate Research Fellowship Program; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute on Drug Abuse; British Heart Foundation; National Institute on Alcohol Abuse and Alcoholism; Economic and Social Research Council; Medical Research Council; National Institute on Aging; National Science Foundation of Sri Lanka; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; National Institutes of Health; Cancer Research UK; National Heart, Lung, and Blood Institute; Pfizer","keywords":"Nonsynonymous substitution; Genetics; Biology; Exome; Heritability; Genome-wide association study; Missing heritability problem; Genetic architecture; Exome sequencing; 1000 Genomes Project; Imputation (statistics); Phenotype; Single-nucleotide polymorphism; Genetic association; Copy-number variation; Genotype; Gene; Genome; Missing data","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":[0.001951291,0.0009550729,0.002156988,0.00175737,0.0001730336,0.001091968,0.001169027,0.001140831,0.002853911],"category_scores_gemma":[0.003700447,0.0003439423,0.001610052,0.002649271,0.0004490273,0.0007538896,0.0009052214,0.001403539,0.0005140111],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004898795,"about_ca_system_score_gemma":0.00157088,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00219907,"about_ca_topic_score_gemma":0.005446861,"domain_scores_codex":[0.9995086,0.0001199554,0.00007541405,0.0001471615,0.0001129093,0.00003589213],"domain_scores_gemma":[0.9976587,0.001840343,0.0001884997,0.00007508684,0.000184857,0.00005251067],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.0004888147,0.00003927237,0.01037017,0.02741253,0.005856613,0.0005081226,0.0001034443,0.0007439964,0.00171249,0.005765683,0.0175675,0.9294313],"study_design_scores_gemma":[0.0002695054,0.0002790127,0.06635683,0.02887282,0.0249014,0.005630811,0.0003095605,0.0009241907,0.002020075,0.03002262,0.8402231,0.0001900404],"study_design_candidate":"meta_analysis","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006466029,0.9972819,0.0005983884,0.0006942292,0.0001604067,0.000003857039,0.000230406,0.00001212279,0.0003721251],"genre_scores_gemma":[0.005919491,0.9914853,0.0008802059,0.0007274455,0.0003060409,0.00001000335,0.0003196411,0.000007329758,0.000344487],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002853911,"threshold_uncertainty_score":0.01031953,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1225067968738387,"score_gpt":0.3422686756341199,"score_spread":0.2197618787602812,"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."}}