{"id":"W4388913661","doi":"10.3390/biology12121459","title":"The Diagnostic Landscape of Adult Neurogenetic Disorders","year":2023,"lang":"en","type":"article","venue":"Biology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"","keywords":"Disease; Diagnostic test; Genetic testing; Biology; Population; Intensive care medicine; Bioinformatics; Pediatrics; Medicine; Pathology; Genetics","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":[0.0000459484,0.00006743435,0.0000653134,0.00002023196,0.00006851892,0.000004556955,0.0001679822,0.00006168924,0.000005525265],"category_scores_gemma":[0.0003499823,0.00004514474,0.00006443985,0.00007792989,0.000103971,3.006934e-7,0.00009457311,0.00002310234,0.00002548464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":8.672791e-7,"about_ca_system_score_gemma":0.00002959944,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000108625,"about_ca_topic_score_gemma":0.00006677461,"domain_scores_codex":[0.999498,0.00004155526,0.0001093748,0.0001543182,0.00002583421,0.0001709109],"domain_scores_gemma":[0.9995801,0.00009431712,0.00004002116,0.0002168864,0.00003502057,0.00003361977],"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":[0.0001806513,0.0001380402,0.4152364,0.00004528146,0.0002270971,0.00001027569,0.00007228828,0.0003161675,0.5061551,0.005927249,0.02977014,0.04192127],"study_design_scores_gemma":[0.001407453,0.00150962,0.5007008,0.00001276745,0.00007200205,0.00002192882,0.0004125599,0.0003463237,0.0425374,0.005543203,0.4469049,0.0005310345],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972439,0.001584096,0.00002014144,0.0003706118,0.0002406335,0.00009006084,0.00003923456,0.00001004333,0.0004012121],"genre_scores_gemma":[0.9945107,0.004975094,0.000008688901,0.0001063505,0.00008366101,0.00002227137,0.0001382027,0.000009661505,0.0001454297],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4636177,"threshold_uncertainty_score":0.1840949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004133023499797023,"score_gpt":0.2252999871307038,"score_spread":0.2211669636309068,"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."}}