{"id":"W3138987586","doi":"","title":"Discovery of novel disease-causing mutations in inherited retinal dystrophies – an application to retinitis pigmentosa","year":2020,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; Queen's University","funders":"","keywords":"Retinitis pigmentosa; Disease; Retinal Disorder; Genetics; Retinal; Medicine; Ophthalmology; Biology; Internal medicine","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":[0.0002275432,0.0001428015,0.0001463806,0.0001129905,0.000117802,0.00003570271,0.0002530161,0.00005715498,0.000005289467],"category_scores_gemma":[0.0006664394,0.0001464068,0.00002855432,0.0009348289,0.001450037,0.00004879963,0.0001814833,0.00007882258,0.000003081554],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002296039,"about_ca_system_score_gemma":0.0003178439,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005455055,"about_ca_topic_score_gemma":0.000006780184,"domain_scores_codex":[0.9985989,0.00007302623,0.0002756883,0.0005650899,0.0002282013,0.000259077],"domain_scores_gemma":[0.9993234,0.00001814424,0.0001238827,0.0001448632,0.0001373646,0.0002523776],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001172687,0.00008938387,0.07374234,0.00001226694,0.000004181524,0.00001225108,0.0005852256,0.00025937,0.9249679,0.0001381401,0.000006227869,0.00006540482],"study_design_scores_gemma":[0.0003911447,0.0008388929,0.5220131,0.00003942559,0.000009034702,0.00001998333,0.0008250688,0.00134858,0.4737343,0.0004979711,0.00002967552,0.0002527298],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975314,0.00002701376,0.0008982,0.0009181705,0.00003490782,0.0003006762,0.00002157317,0.000008058239,0.0002600355],"genre_scores_gemma":[0.9955856,0.000003425196,0.003836446,0.0003560106,0.00003692642,0.00005099816,0.0001028787,0.00001013346,0.0000175789],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4512336,"threshold_uncertainty_score":0.5970294,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04030991241520054,"score_gpt":0.3292179677861312,"score_spread":0.2889080553709307,"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."}}