{"id":"W2042745250","doi":"10.1139/i06-007","title":"Utility of molecular testing for related retinal dystrophies","year":2006,"lang":"en","type":"article","venue":"Canadian Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"","keywords":"Retinitis pigmentosa; Genetic testing; ABCA4; Molecular genetics; Medicine; Stargardt disease; Ophthalmology; Disease; Molecular diagnostics; Retinal; Genetics; Bioinformatics; Biology; Phenotype; Pathology; Gene; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0002485058,0.0001018293,0.0001894657,0.0001217827,0.0000559285,0.000007689529,0.0001755386,0.0001370184,0.00007410098],"category_scores_gemma":[0.0004211414,0.0001001964,0.0001110059,0.000113959,0.0001809635,0.000003499021,0.00001147744,0.00007942827,7.278867e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009436983,"about_ca_system_score_gemma":0.0006813232,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006486847,"about_ca_topic_score_gemma":0.0000642443,"domain_scores_codex":[0.9991058,0.00004798829,0.0004124868,0.0001271934,0.00006304478,0.0002435492],"domain_scores_gemma":[0.9991054,0.00002577349,0.0002713653,0.0001114644,0.0003569079,0.0001290742],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003125807,0.00005457706,0.6560463,0.00008969301,0.0001488867,0.002616748,0.00004488184,0.0002434146,0.3344218,0.001268005,0.00404491,0.0007081694],"study_design_scores_gemma":[0.003266446,0.004403991,0.6456915,0.0001417339,0.0001491344,0.08168497,0.0003104899,0.0000967531,0.2348606,0.02105986,0.007565818,0.0007687383],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9792765,0.001161216,0.0002319793,0.0001154312,0.0001691921,0.00008673793,0.00001274249,8.370087e-7,0.01894539],"genre_scores_gemma":[0.9955283,0.000001388646,0.003962924,0.00000891791,0.00005350855,0.000001735622,0.00002572651,0.00001232478,0.0004051539],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09956127,"threshold_uncertainty_score":0.4085892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01452735682777259,"score_gpt":0.2403978716433948,"score_spread":0.2258705148156222,"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."}}