{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000097895,0.0001357872,0.0001196617,0.00003730031,0.00005941137,0.00001735053,0.0001459881,0.000100844,0.0006401702],"category_scores_gemma":[0.00004350801,0.0001087977,0.00003536502,0.00006278478,0.0001345734,0.000004830445,0.00006883447,0.00006377062,0.0002445696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006129344,"about_ca_system_score_gemma":0.0000718648,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005305243,"about_ca_topic_score_gemma":0.000001391712,"domain_scores_codex":[0.9991674,0.00009007747,0.000121438,0.0002674744,0.00007789647,0.0002757171],"domain_scores_gemma":[0.9995731,0.00001540757,0.00003551049,0.0002240043,0.00007389415,0.00007806623],"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":[0.003405664,0.0001239979,0.1776362,0.00001414786,0.0001060562,0.0002855645,0.00006224126,0.00002334854,0.8113501,0.0001316142,0.006285203,0.0005758503],"study_design_scores_gemma":[0.002813184,0.004836778,0.8526269,0.0000140982,0.00002477441,0.006957023,0.0003577053,0.00002114262,0.09773342,0.0002321393,0.03357058,0.0008122321],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868216,0.0001113245,0.00007734402,0.0004750625,0.00007501583,0.0001645273,0.000002367522,0.000009558712,0.01226319],"genre_scores_gemma":[0.9919858,0.000009246754,0.001124015,0.0001584342,0.0000483282,0.00005628557,0.0000582425,0.00001814732,0.006541518],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7136167,"threshold_uncertainty_score":0.7009414,"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."}}