{"id":"W4401650499","doi":"10.1016/j.oret.2024.08.007","title":"Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada","year":2024,"lang":"en","type":"article","venue":"Ophthalmology Retina","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kensington Health; Public Health Ontario; North York General Hospital; Western University","funders":"Bayer; Ministry of Health; Novartis; Foundation Fighting Blindness","keywords":"Medicine; Ophthalmology; Optometry; Retinal; Genetics; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001335438,0.000205443,0.0002665657,0.00006937184,0.00004906727,0.00001977913,0.0001748705,0.0001146554,0.0000114961],"category_scores_gemma":[0.0004070803,0.0001722244,0.00003777178,0.0002044791,0.0001130199,0.00000372085,0.000150743,0.00007795217,2.428343e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005577523,"about_ca_system_score_gemma":0.0005706333,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01963475,"about_ca_topic_score_gemma":0.008555566,"domain_scores_codex":[0.9986578,0.00006809436,0.0003233539,0.0005579161,0.00009532677,0.0002975224],"domain_scores_gemma":[0.9992042,0.0001430996,0.00008732984,0.0002610119,0.0001940534,0.0001103556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004270393,0.0001089881,0.9902133,0.0001953071,0.00003895489,0.0001983654,0.00002069822,0.00007699592,0.00749224,0.000006880186,0.00005349597,0.001167724],"study_design_scores_gemma":[0.0005836906,0.002110868,0.9899709,0.0001069681,0.00002913623,0.0001826196,0.00007791327,0.0001127988,0.00632561,0.00007828513,0.0001709751,0.0002502141],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978265,0.000868996,0.0000113179,0.00006838137,0.0001172199,0.0005722059,0.0004079299,0.000005675409,0.0001217403],"genre_scores_gemma":[0.9970871,0.00001680264,0.002411232,0.00002382291,0.0000433325,0.0001649308,0.000186916,0.00002781851,0.00003801026],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01107918,"threshold_uncertainty_score":0.9868936,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01491961699060516,"score_gpt":0.2592540048720601,"score_spread":0.244334387881455,"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."}}