{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000934647,0.0004773299,0.002157046,0.0001727333,0.0001228846,0.00003476225,0.0003333463,0.0009148354,0.00006433735],"category_scores_gemma":[0.0005068944,0.0002601566,0.0007880098,0.0003919021,0.0003022432,0.0000028879,0.0003600977,0.000341033,0.000001730014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001004502,"about_ca_system_score_gemma":0.00008290313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006778206,"about_ca_topic_score_gemma":0.0002174549,"domain_scores_codex":[0.9966456,0.001049093,0.0009087087,0.0008893048,0.0001029685,0.0004043163],"domain_scores_gemma":[0.9983132,0.0003147244,0.0006315269,0.0005959909,0.00005135007,0.00009318853],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002201591,0.0006728414,0.6934764,0.003846104,0.2199765,0.00003210982,0.0001874488,0.0001817964,0.0004263966,0.00109982,0.005979147,0.07390127],"study_design_scores_gemma":[0.0009938488,0.0009420551,0.735654,0.0004018668,0.1090158,0.0002301864,0.00007120337,0.00003788941,0.000004948585,0.003020051,0.1480995,0.001528743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.04164114,0.9566023,0.000341989,0.000222655,0.000171886,0.0004891497,0.0004874422,0.000007082543,0.00003635829],"genre_scores_gemma":[0.06593743,0.9281713,0.004594698,0.0002619573,0.0002763413,0.00008629922,0.0005788539,0.00002883738,0.00006431294],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.1421203,"threshold_uncertainty_score":0.999985,"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."}}