{"id":"W2099563339","doi":"10.3109/13816810.2011.592172","title":"Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy","year":2011,"lang":"en","type":"article","venue":"Ophthalmic Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Eye Institute","keywords":"Phenotype; Genetics; Mutation; Compound heterozygosity; Genotype; Genotype-phenotype distinction; Maculopathy; Biology; Genetic testing; Gene; Medicine; Retinopathy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003094941,0.0001284749,0.0001094319,0.00002806818,0.0000353098,0.000005494133,0.000115621,0.00008111497,0.00004459489],"category_scores_gemma":[0.00001334337,0.0001085954,0.00002094104,0.00005746514,0.0001068163,0.000002384194,0.00007852878,0.00003934126,0.000005518504],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003079347,"about_ca_system_score_gemma":0.00005292327,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008413299,"about_ca_topic_score_gemma":0.000002604216,"domain_scores_codex":[0.9993542,0.00001898424,0.0001430987,0.0002213089,0.0001077546,0.0001546821],"domain_scores_gemma":[0.9995468,0.000002810418,0.00009245976,0.0001841866,0.0001133871,0.00006038016],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004574572,0.0001457264,0.9714067,0.00003433358,0.00005617047,0.000004510085,0.0002981796,0.000006878279,0.02372639,0.00004422102,0.00005694945,0.003762512],"study_design_scores_gemma":[0.0007219927,0.001094198,0.9615619,0.00001067029,0.00002788279,0.00000599029,0.00006294113,0.000005960496,0.03566022,0.0001429684,0.0005086297,0.0001966876],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950843,0.0006649862,0.00009213057,0.000004691378,0.00006023032,0.0001329304,0.00001070548,0.000003970054,0.003946038],"genre_scores_gemma":[0.9925137,0.0001689335,0.007054388,0.00002148602,0.00002033871,0.000004807832,0.00006218081,0.00001917534,0.0001350531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01193383,"threshold_uncertainty_score":0.4428393,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009074612085044726,"score_gpt":0.2011219657743834,"score_spread":0.1920473536893387,"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."}}