{"id":"W2462166100","doi":"10.1038/ejhg.2016.73","title":"Clinical utility gene card for: Aniridia","year":2016,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Forensic Entomology and Diptera Studies","field":"Agricultural and Biological Sciences","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Moorfields Eye Hospital NHS Foundation Trust; National Institute for Health and Care Research","keywords":"Aniridia; Genetics; Biology; Gene; Report card; Computational biology; Psychology","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":[0.001163135,0.00008616433,0.0001897241,0.000007421015,0.0001415775,0.00001299723,0.0002387971,0.00002659736,0.00007371957],"category_scores_gemma":[0.0001150859,0.00002537859,0.0002013483,0.00003239918,0.0001941903,0.00002867053,0.00006835299,0.000077208,0.00002241805],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006021764,"about_ca_system_score_gemma":0.00000483989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":4.466808e-7,"about_ca_topic_score_gemma":0.00001633471,"domain_scores_codex":[0.9988475,0.0002840743,0.0004753674,0.0001249648,0.0001067098,0.0001614151],"domain_scores_gemma":[0.999238,0.0002017175,0.0002315927,0.00005309405,0.0001823835,0.00009323997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0001385498,0.0001474554,0.2431427,0.000004818482,0.0001319773,0.00009556445,0.0001120351,5.330216e-7,0.09697142,0.0002125061,0.03451177,0.6245307],"study_design_scores_gemma":[0.0005254751,0.002043523,0.8929306,0.00002161057,0.00003753972,0.00003778109,0.00003835449,6.367617e-7,0.00319346,0.0008851115,0.1001772,0.0001087209],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962766,0.0007685845,0.00009552309,0.0005930719,0.0004292667,0.00004912867,0.00001883963,0.000009093407,0.001759868],"genre_scores_gemma":[0.9975015,0.0002625654,0.0006487731,0.0001913653,0.001118005,2.308275e-7,0.000001824584,0.000001192423,0.0002745457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6497879,"threshold_uncertainty_score":0.1088914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0815772893078763,"score_gpt":0.3060196301837333,"score_spread":0.224442340875857,"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."}}