{"id":"W2966247017","doi":"10.1101/mcs.a003715","title":"<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation","year":2019,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"National Center for Advancing Translational Sciences; Office for People With Developmental Disabilities; National Institute of General Medical Sciences; JPB Foundation","keywords":"Retinitis pigmentosa; Neurodegeneration; Retinal degeneration; Genetic heterogeneity; Medicine; Pathology; Exome sequencing; Phenotype; Disease; Biology; Genetics; Retinal; Ophthalmology; Gene","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":[0.0001790896,0.0001726114,0.0002872169,0.0001949487,0.00007476379,0.00003335624,0.00002904234,0.00003063606,0.00001069909],"category_scores_gemma":[0.0001081601,0.000130758,0.0000217383,0.0003977372,0.00009250303,0.0001194537,0.000064808,0.0001669447,0.00000869152],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006523454,"about_ca_system_score_gemma":0.00003963315,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002085298,"about_ca_topic_score_gemma":0.00054804,"domain_scores_codex":[0.9987444,0.00008709091,0.0001684534,0.0003836727,0.0003704733,0.0002459436],"domain_scores_gemma":[0.9994562,0.00006435713,0.00005323921,0.0002212825,0.0001378651,0.00006703039],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002562045,0.0004631237,0.5805033,0.00155226,0.0006163571,0.2389137,0.005632121,0.003077634,0.1595815,0.0005663433,0.0003114856,0.006220215],"study_design_scores_gemma":[0.1281511,0.0397773,0.3509487,0.005237887,0.001734748,0.2985153,0.02569196,0.02598091,0.1155376,0.0005937666,0.002507327,0.005323415],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950932,0.001355003,0.0002005157,0.002030744,0.00001900254,0.000888538,0.000002834401,0.00003211107,0.0003780297],"genre_scores_gemma":[0.9984769,0.00006578382,0.0005548305,0.0005598202,0.00001155798,0.0000522419,0.00002046153,0.00003359967,0.0002248493],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2295546,"threshold_uncertainty_score":0.5332155,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02707316926275672,"score_gpt":0.3393613328974073,"score_spread":0.3122881636346506,"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."}}