{"id":"W3081528139","doi":"10.1016/j.cell.2020.08.008","title":"The Polygenic and Monogenic Basis of Blood Traits and Diseases","year":2020,"lang":"en","type":"review","venue":"Cell","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":743,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Medical Research Council; National Institutes of Health; National Heart, Lung, and Blood Institute; National Centre for the Replacement, Refinement and Reduction of Animals in Research; U.S. Department of Veterans Affairs; National Institute for Health and Care Research; Wellcome Trust; World Health Organization","keywords":"Biology; Biobank; Genome-wide association study; Genetic architecture; Quantitative trait locus; Mendelian inheritance; Human genetic variation; Genetic association; Phenotype; Human genetics; Genetics; Allele; Genetic variation; Computational biology; Polygene; Evolutionary biology; Gene; Single-nucleotide polymorphism; Genome; Genotype; Human genome","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":[0.00009213335,0.0001601437,0.0004878506,0.0000142534,0.00006921822,0.000008868148,0.0001260026,0.0001906062,0.00000333279],"category_scores_gemma":[0.0001101137,0.0001082075,0.0001757007,0.0000471872,0.00009474026,4.388265e-7,0.0001249176,0.00007016358,0.000001878937],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002445319,"about_ca_system_score_gemma":0.00009767343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003519682,"about_ca_topic_score_gemma":0.00000427826,"domain_scores_codex":[0.9991518,0.0001357688,0.0002703673,0.0002627028,0.00003635356,0.0001430185],"domain_scores_gemma":[0.9994703,0.0000936433,0.0001996888,0.0001365895,0.00001901667,0.00008077785],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000006301316,0.00004229915,0.0003037698,0.002121587,0.0005312801,0.000001724931,0.00002037982,3.890189e-7,0.0007962128,0.00002067568,0.002173157,0.9939822],"study_design_scores_gemma":[0.0001372969,0.0001120891,0.0007167948,0.00007590352,0.001182485,0.00001104745,0.0000153243,0.000002180541,0.0001095159,0.00003232348,0.9974695,0.0001355272],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002299585,0.9971673,0.00001092238,0.00005116207,0.00002630972,0.0001779784,0.0001109905,0.00000246894,0.0001532142],"genre_scores_gemma":[0.004031912,0.9953142,0.00009990927,0.00003212355,0.0001000646,0.00002372854,0.00005635201,0.00001765606,0.0003240033],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9952964,"threshold_uncertainty_score":0.4412575,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01473712275424151,"score_gpt":0.2628562988276976,"score_spread":0.2481191760734561,"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."}}