{"id":"W3196798176","doi":"10.1371/journal.pgen.1009713","title":"Multitrait GWAS to connect disease variants and biological mechanisms","year":2021,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"National Institute of Dental and Craniofacial Research; Lundbeckfonden; National Institutes of Health; Agence Nationale de la Recherche","keywords":"Genome-wide association study; Biology; Genetic association; Computational biology; Genetic architecture; Phenotype; DECIPHER; Genetics; Gene; Single-nucleotide polymorphism; Genotype","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":[0.0001326758,0.0001495844,0.0001837934,0.00002317549,0.00009111446,0.00001928767,0.0001152865,0.000166081,0.00006906012],"category_scores_gemma":[0.0007004846,0.0001422692,0.00005969237,0.0000785456,0.00004750939,8.948091e-7,0.0002326774,0.00006147647,0.00003055642],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008580634,"about_ca_system_score_gemma":0.00008441987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001531865,"about_ca_topic_score_gemma":0.00001609352,"domain_scores_codex":[0.9988122,0.0001385588,0.0002039676,0.0004660276,0.00008332699,0.0002959142],"domain_scores_gemma":[0.9991986,0.00003892157,0.00004654294,0.0003166445,0.0001191184,0.0002801537],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004638467,0.0001971495,0.04766691,0.00001548695,0.0001405004,0.00002680894,0.00005273861,0.0003604191,0.9474854,0.0006968385,0.001578126,0.001733235],"study_design_scores_gemma":[0.001997653,0.001196614,0.532762,0.00004102785,0.0002255704,0.00006222451,0.0003253731,0.004576481,0.4066288,0.0110128,0.03978548,0.001385966],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9893339,0.001413788,0.007665677,0.0008944492,0.0001236125,0.0001735639,0.00008835259,0.00001383984,0.0002928134],"genre_scores_gemma":[0.9750642,0.0005752612,0.02168075,0.002036029,0.0001471047,0.00003169234,0.0001430823,0.00001807342,0.0003038641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5408566,"threshold_uncertainty_score":0.580157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03025065027407813,"score_gpt":0.2644778444119171,"score_spread":0.2342271941378389,"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."}}