{"id":"W4224985489","doi":"10.1093/nar/gkac289","title":"ExPheWas: a platform for <i>cis</i> -Mendelian randomization and gene-based association scans","year":2022,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Medical Research Council","keywords":"Mendelian randomization; Biology; Phenome; Biobank; Gene; Genetics; Computational biology; Phenotype; Mendelian inheritance; Genetic association; Bioinformatics; Genotype; Single-nucleotide polymorphism; Genetic variants","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":[0.01472195,0.002168868,0.002956285,0.005531583,0.0009983677,0.003664915,0.004740158,0.001979501,0.1129184],"category_scores_gemma":[0.03608009,0.002678546,0.00272027,0.004934739,0.001155071,0.002923179,0.005704612,0.003318517,0.0228305],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000756492,"about_ca_system_score_gemma":0.00363457,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003520992,"about_ca_topic_score_gemma":0.009526404,"domain_scores_codex":[0.995095,0.001870417,0.0005563171,0.001139589,0.001062918,0.000275793],"domain_scores_gemma":[0.9662044,0.02539418,0.001719087,0.00417288,0.001614954,0.0008945235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.004976573,0.0003685335,0.01977301,0.00523546,0.003231472,0.002963115,0.001276342,0.005956999,0.01758837,0.03265584,0.7466043,0.15937],"study_design_scores_gemma":[0.006244414,0.000382653,0.02234919,0.001261243,0.00154509,0.003268309,0.0003293628,0.04570574,0.0268576,0.144428,0.7468745,0.0007538309],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.006046949,0.001348806,0.479636,0.001454292,0.0009242443,0.0007848681,0.2497483,0.2505454,0.009511062],"genre_scores_gemma":[0.05514703,0.001685701,0.6740794,0.002221231,0.0004448942,0.006325315,0.1793354,0.06714419,0.01361701],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.1129184,"threshold_uncertainty_score":0.3777496,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0358483948374874,"score_gpt":0.326159896923679,"score_spread":0.2903115020861916,"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."}}