{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001784286,0.001078905,0.0005084118,0.0005256527,0.0004670983,0.0003547703,0.0002005893,0.0006314209,0.002570427],"category_scores_gemma":[0.001137041,0.0002121148,0.0001923551,0.0002994521,0.0003710188,0.0002429452,0.0003146656,0.0003009447,0.0005327],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001386536,"about_ca_system_score_gemma":0.0001309102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003765043,"about_ca_topic_score_gemma":0.0003877885,"domain_scores_codex":[0.9997923,0.00003705201,0.00002708814,0.00006366299,0.00003516743,0.00004482695],"domain_scores_gemma":[0.9994849,0.0001846173,0.0001459321,0.00003266985,0.00003546001,0.0001163542],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001250793,0.0002106839,0.7773548,0.0001578555,0.00009943238,0.1343894,0.001606109,0.0006639879,0.06242977,0.0003976888,0.001137972,0.0203014],"study_design_scores_gemma":[0.0001224917,0.000733833,0.5069179,0.00004578197,0.00009721889,0.4838975,0.0004971556,0.0006194445,0.004784049,0.0003812129,0.001864711,0.00003863067],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987728,0.0001558681,0.0002545192,0.00005424078,0.000004612401,0.000007167042,0.00009701526,0.00002236925,0.000631322],"genre_scores_gemma":[0.9991637,0.00007128452,0.0002740842,0.00004201702,0.00001628677,0.000008306801,0.0001327254,0.00001423234,0.0002774388],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002570427,"threshold_uncertainty_score":0.008598924,"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."}}