{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001244457,0.0008971051,0.001725118,0.001951758,0.0002246735,0.001068546,0.001079026,0.001385193,0.004239555],"category_scores_gemma":[0.001923852,0.000261608,0.0006330283,0.001879932,0.0007350732,0.0009037533,0.0008800509,0.001840881,0.001910835],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007281704,"about_ca_system_score_gemma":0.001507247,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001535166,"about_ca_topic_score_gemma":0.002243932,"domain_scores_codex":[0.9997007,0.00007615459,0.0000433749,0.00006948101,0.00008316255,0.00002713804],"domain_scores_gemma":[0.9988912,0.0007335597,0.0001033036,0.00003213566,0.0001654449,0.00007434917],"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":[0.0001359714,0.00003400703,0.0007243926,0.01311249,0.0003632584,0.0003038848,0.0000387346,0.0003980642,0.0006366179,0.007835839,0.0250052,0.9514115],"study_design_scores_gemma":[0.00003550138,0.00009732867,0.003453283,0.006790495,0.0004666595,0.002151841,0.00005802451,0.000152223,0.0003488493,0.008955481,0.977457,0.00003343113],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00008636326,0.9983485,0.0001845267,0.0006140234,0.0001435764,0.000002743255,0.00003910766,0.000007847451,0.000573374],"genre_scores_gemma":[0.0007022098,0.9983581,0.0001423182,0.000281174,0.0001772088,0.000004893979,0.00006234601,0.000001707843,0.000270003],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004239555,"threshold_uncertainty_score":0.01418275,"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."}}