{"id":"W3113377652","doi":"10.1016/j.ajo.2020.11.022","title":"KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1","year":2020,"lang":"en","type":"article","venue":"American Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Janssen Pharmaceuticals; UCL Institute of Ophthalmology, University College London; Moorfields Eye Hospital NHS Foundation Trust; National Eye Institute; Moorfields Eye Charity; Astellas Pharma; Fundación Ramón Areces; Bundesministerium für Bildung und Forschung; Instituto de Salud Carlos III; Tistou and Charlotte Kerstan Stiftung; A.G. Leventis Foundation; Retina UK; Wellcome Trust; AbbVie; Deutsche Forschungsgemeinschaft; Research to Prevent Blindness; Foundation Fighting Blindness; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Novartis; Alexander S. Onassis Public Benefit Foundation; Fight for Sight UK","keywords":"Medical genetics; Cohort; Medicine; Retinopathy; Clinical electrophysiology; Electrophysiology; Ophthalmology; Genetics; Biology; Physiology; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006494198,0.0002101564,0.0006037818,0.00004082648,0.00006589037,0.00001530645,0.000286474,0.0001244538,0.00002623035],"category_scores_gemma":[0.0005302079,0.0001877056,0.0001599476,0.0001692975,0.0005168808,0.000005306224,0.0001483046,0.0003214733,0.000003796704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001116142,"about_ca_system_score_gemma":0.0001821563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001291499,"about_ca_topic_score_gemma":0.000001265058,"domain_scores_codex":[0.9977251,0.000518276,0.0008522645,0.0004130886,0.0001750437,0.000316267],"domain_scores_gemma":[0.9982883,0.00006154492,0.000973413,0.0001956935,0.0002309384,0.0002500585],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001039389,0.0005187153,0.9756485,0.00000358903,0.000499365,0.002899326,0.0001119526,0.000005928066,0.01546535,0.000003510839,0.001191484,0.002612941],"study_design_scores_gemma":[0.001934667,0.03432654,0.9519975,0.000006621903,0.0001616702,0.009001552,0.0009333604,0.00001501875,0.000413977,0.0000550539,0.0008643514,0.0002897398],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979037,0.0004998699,0.00005908822,0.0007672617,0.0002059934,0.0001607971,0.000002050958,0.000005913907,0.0003953227],"genre_scores_gemma":[0.9982318,0.0003680906,0.0005845014,0.0004063299,0.0002853708,0.00000314768,0.00002635262,0.00002722709,0.00006718701],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03380782,"threshold_uncertainty_score":0.7654413,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01713855793522973,"score_gpt":0.3190917731179456,"score_spread":0.3019532151827158,"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."}}