{"id":"W2128745766","doi":"10.1016/s0161-6420(03)00575-x","title":"Phenotype and genotype correlations in two best families","year":2003,"lang":"en","type":"article","venue":"Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":false,"ca_institutions":"Queen's University","funders":"National Eye Institute","keywords":"Genotype; Genetics; Maculopathy; Drusen; Fundus photography; Gene mutation; Medicine; Mutation; Biology; Genotype-phenotype distinction; Macular degeneration; Pathology; Gene; Retinal; Retinopathy; Ophthalmology; Fluorescein angiography; Endocrinology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008977139,0.0030839,0.001791981,0.004329331,0.003270008,0.001337885,0.001422106,0.002603133,0.007058754],"category_scores_gemma":[0.007593703,0.001225074,0.001206779,0.002227299,0.002576615,0.0007009169,0.001545752,0.001696838,0.001005525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007858396,"about_ca_system_score_gemma":0.000689196,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00684617,"about_ca_topic_score_gemma":0.003139006,"domain_scores_codex":[0.9980014,0.0004728058,0.0002148495,0.000444586,0.0003739039,0.0004924154],"domain_scores_gemma":[0.9923929,0.004221162,0.00101537,0.0004836448,0.00056827,0.0013186],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.003855243,0.001330472,0.2999838,0.0001618007,0.0003708175,0.643651,0.01086351,0.001239713,0.01996147,0.002693237,0.001696571,0.01419236],"study_design_scores_gemma":[0.0002217948,0.001294074,0.4381627,0.0001223064,0.0007771341,0.5422584,0.003726539,0.001452984,0.006937284,0.001603408,0.003204626,0.0002388275],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958535,0.0003827777,0.0004836728,0.0003592213,0.00004466628,0.00002338301,0.0004684233,0.00003653143,0.002347885],"genre_scores_gemma":[0.9972625,0.0003059826,0.0005708613,0.0001502207,0.0000886296,0.0000264401,0.0002087189,0.00005412597,0.001332445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007058754,"threshold_uncertainty_score":0.02361381,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01317509720744459,"score_gpt":0.2805786884590697,"score_spread":0.2674035912516251,"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."}}