{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001546132,0.0004432922,0.000571924,0.001109901,0.000399416,0.001087821,0.000379575,0.0005897875,0.003754504],"category_scores_gemma":[0.003817525,0.0002139151,0.0004660089,0.002000513,0.0008647248,0.0003507421,0.001276897,0.0006643567,0.0003273473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001843757,"about_ca_system_score_gemma":0.0003453658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002489981,"about_ca_topic_score_gemma":0.002092959,"domain_scores_codex":[0.9985739,0.0005420627,0.00009713609,0.0004441063,0.0002521983,0.00009056584],"domain_scores_gemma":[0.998068,0.0009410338,0.0004830821,0.0003418505,0.00005673212,0.0001092823],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000813116,0.00005584439,0.8895845,0.000370546,0.002728195,0.0023901,0.0006356927,0.004006731,0.02431776,0.01283549,0.004720107,0.05754197],"study_design_scores_gemma":[0.00008183665,0.00008952905,0.9517441,0.0001191968,0.0007578603,0.003186159,0.0002327118,0.003903145,0.00274071,0.0284491,0.008662038,0.00003358429],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9675485,0.004092961,0.0168696,0.001847685,0.00007923265,0.00002444256,0.005914493,0.000194122,0.003428975],"genre_scores_gemma":[0.9915825,0.0009924191,0.004659852,0.0002672155,0.00008259104,0.00002448419,0.001789971,0.00004242516,0.0005586098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003754504,"threshold_uncertainty_score":0.01256007,"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."}}