{"id":"W2117804535","doi":"10.1016/j.ophtha.2013.03.031","title":"Cone Dystrophy with Supernormal Rod Response","year":2013,"lang":"en","type":"article","venue":"Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Deutsche Forschungsgemeinschaft; Foundation Fighting Blindness","keywords":"Sanger sequencing; Genetics; Medicine; Disease gene identification; Single-nucleotide polymorphism; Mutation; Compound heterozygosity; Population; Retinitis pigmentosa; Genotype; Biology; Exome sequencing; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007917303,0.003617594,0.001908172,0.004763512,0.002750137,0.001247303,0.00159007,0.003859673,0.005381629],"category_scores_gemma":[0.002467773,0.00106573,0.001102795,0.002512401,0.003088693,0.001267957,0.001905548,0.002845973,0.0009582736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001228369,"about_ca_system_score_gemma":0.001437313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004868395,"about_ca_topic_score_gemma":0.003322982,"domain_scores_codex":[0.9984718,0.0002024627,0.0002391803,0.0004124924,0.0004068323,0.0002672469],"domain_scores_gemma":[0.9977792,0.0007446217,0.0004164234,0.0002637156,0.0002202244,0.0005759008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008664018,0.0001927116,0.01338493,0.0001708823,0.0000782257,0.9528477,0.0003662954,0.0006773581,0.02265337,0.002706929,0.0008939346,0.00516125],"study_design_scores_gemma":[0.0001450074,0.0004674282,0.03336277,0.00003746088,0.0001335603,0.9460353,0.0002452724,0.002021357,0.01313103,0.002329973,0.002014993,0.000075889],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9677521,0.001904641,0.005877425,0.001914224,0.0005192127,0.0003293939,0.001460338,0.00081402,0.01942851],"genre_scores_gemma":[0.9921799,0.000439228,0.002185521,0.0003713465,0.0001972865,0.00004768509,0.0002234144,0.0001084885,0.004247067],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005381629,"threshold_uncertainty_score":0.0180034,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006075075341137158,"score_gpt":0.2186545771321793,"score_spread":0.2125795017910421,"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."}}