{"id":"W2078477574","doi":"10.1086/338709","title":"Digenic Inheritance of Early-Onset Glaucoma: CYP1B1, a Potential Modifier Gene","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Glaucoma and retinal disorders","field":"Medicine","cited_by":308,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; Toronto Western Hospital; University of Toronto; University Health Network","funders":"","keywords":"CYP1B1; Glaucoma; Myocilin; Genetics; Biology; Allele; Genetic heterogeneity; Population; Mutation; Age of onset; Ophthalmology; Phenotype; Medicine; Gene; Internal medicine; Open angle glaucoma; Disease; Endocrinology","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":[0.0003701642,0.001084095,0.0006090611,0.001908423,0.0007022182,0.0003482759,0.000455038,0.0009702375,0.005963965],"category_scores_gemma":[0.001303408,0.000256565,0.0003990109,0.001265908,0.0005143113,0.0002510053,0.0004193987,0.0009001576,0.0004045466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002855939,"about_ca_system_score_gemma":0.0002584375,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002264637,"about_ca_topic_score_gemma":0.001790349,"domain_scores_codex":[0.9995475,0.0001597539,0.00003035115,0.0001136126,0.00008580416,0.00006294514],"domain_scores_gemma":[0.9991067,0.0004292318,0.0001811937,0.00006714128,0.00004657514,0.0001691657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007176204,0.000701598,0.3646723,0.0003619513,0.0006742654,0.2220655,0.0009208069,0.0007776773,0.3293551,0.008361018,0.004032575,0.06090111],"study_design_scores_gemma":[0.0007182528,0.0008872182,0.7340118,0.0001688799,0.001344761,0.2267633,0.0003287558,0.004138229,0.02330714,0.003480414,0.004771747,0.00007952696],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9901263,0.001607641,0.002555983,0.001405186,0.00008683188,0.00003041042,0.0003864497,0.0001078687,0.003693337],"genre_scores_gemma":[0.9962739,0.0006324128,0.001228561,0.000176629,0.0001731925,0.000009659646,0.000114239,0.00002553755,0.001365993],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005963965,"threshold_uncertainty_score":0.0199514,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01600664362133707,"score_gpt":0.2576145591169572,"score_spread":0.2416079154956201,"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."}}