{"id":"W3005931037","doi":"10.1101/2020.02.02.20020065","title":"The Polygenic and Monogenic Basis of Blood Traits and Diseases","year":2020,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Wellcome Trust","keywords":"Biobank; Genome-wide association study; Biology; Genetic architecture; Mendelian inheritance; Quantitative trait locus; Human genetic variation; Allele; Phenotype; Genetic association; Genetics; Human genetics; Polygene; Genetic variation; Blood cell; Computational biology; Single-nucleotide polymorphism; Gene; Genotype; Genome; 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":[0.0001802043,0.0001511131,0.0002441978,0.00001613701,0.00008264814,0.00001391944,0.000171648,0.0002053389,0.00000423244],"category_scores_gemma":[0.0004001325,0.0001140591,0.0001017728,0.00003080285,0.0001529636,5.172923e-7,0.0004814244,0.0001175258,7.727585e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002093732,"about_ca_system_score_gemma":0.00007071212,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000017293,"about_ca_topic_score_gemma":0.00002294761,"domain_scores_codex":[0.9990238,0.000139505,0.0002537249,0.0003605331,0.00006185711,0.0001605984],"domain_scores_gemma":[0.9994245,0.0000582134,0.0001744235,0.0002049177,0.00004210742,0.00009586754],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005851993,0.00006127042,0.8650468,0.0001430128,0.0009870885,0.000002461983,0.0001272762,0.00005495159,0.1225104,0.0001475627,0.001656401,0.00920422],"study_design_scores_gemma":[0.0002409353,0.0001227175,0.9910295,0.00001023404,0.0003130886,0.000005645828,0.00004605629,0.0001287037,0.004188025,0.001199466,0.002562235,0.0001534179],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9729521,0.02470889,0.0001333688,0.001800486,0.00005886016,0.000147728,0.000120916,0.000005299215,0.0000724003],"genre_scores_gemma":[0.9908056,0.0083647,0.0003428034,0.0001264742,0.0001298772,0.0000296444,0.00004124974,0.00001505169,0.0001446227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1259827,"threshold_uncertainty_score":0.4651196,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01380577400444132,"score_gpt":0.2483044292971686,"score_spread":0.2344986552927273,"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."}}