{"id":"W2146884008","doi":"10.1093/hmg/11.18.2077","title":"Founder TIGR/myocilin mutations for glaucoma in the Quebec population","year":2002,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":124,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Canadian Institutes of Health Research; Fondation des Maladies de l'Oeil","keywords":"Myocilin; Founder effect; Glaucoma; Genetics; Biology; Allele; Population; Mutation; Open angle glaucoma; Allele frequency; Haplotype; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0004302014,0.0003277655,0.0002652341,0.001334974,0.001704178,0.0006206553,0.0005220748,0.0003737037,0.006236378],"category_scores_gemma":[0.001442356,0.0001361608,0.0003172056,0.001245016,0.0003612037,0.0002142349,0.000303978,0.0003345056,0.0002710391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005418837,"about_ca_system_score_gemma":0.003872252,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.932983,"about_ca_topic_score_gemma":0.9339006,"domain_scores_codex":[0.9996514,0.00003985392,0.00001868541,0.00009147954,0.0001240425,0.00007441555],"domain_scores_gemma":[0.9993863,0.00008237929,0.0001128029,0.00002457582,0.0002801089,0.0001137861],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001440482,0.00003672047,0.97175,0.00003552078,0.00007819802,0.001619076,0.0005580896,0.0001810219,0.002374685,0.0002827431,0.002895665,0.02004428],"study_design_scores_gemma":[0.00002104156,0.00005052183,0.9930534,0.00004547639,0.00005886266,0.001541284,0.0005018681,0.0008993057,0.0002179933,0.00008932506,0.003502178,0.00001886968],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890372,0.001685748,0.0005170264,0.0005099847,0.00003757328,0.00006304101,0.002073335,0.0000399163,0.006036184],"genre_scores_gemma":[0.9973368,0.000347597,0.0002517199,0.0001129449,0.000009711364,0.00001054712,0.0004567078,0.000005972132,0.001467825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06701696,"threshold_uncertainty_score":0.1348232,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02758693015570509,"score_gpt":0.2916780077890013,"score_spread":0.2640910776332963,"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."}}