{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01099429,0.0005835657,0.0006195014,0.003637409,0.001225213,0.002595792,0.001664087,0.002115839,0.002829339],"category_scores_gemma":[0.02924068,0.0003415579,0.0004775051,0.00157455,0.002671058,0.003099598,0.002483706,0.002855611,0.00102654],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001829714,"about_ca_system_score_gemma":0.002289833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004671971,"about_ca_topic_score_gemma":0.005100762,"domain_scores_codex":[0.9941438,0.002083941,0.0009473523,0.0008481829,0.001516352,0.0004603333],"domain_scores_gemma":[0.9847087,0.007997734,0.001354657,0.0004411617,0.00441431,0.00108347],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003424769,0.0001154327,0.1259749,0.001892632,0.0001469295,0.01841778,0.002719159,0.001342596,0.00566437,0.04101406,0.09128544,0.7110842],"study_design_scores_gemma":[0.0000885353,0.0005448042,0.1000458,0.01439568,0.0004446651,0.1928126,0.009236203,0.005683867,0.006550029,0.1349282,0.5350192,0.0002504605],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.08654199,0.5257781,0.04835768,0.2871571,0.003254956,0.0001476098,0.001152955,0.0006761694,0.04693348],"genre_scores_gemma":[0.5448029,0.2888887,0.09063185,0.06042992,0.008383655,0.000255824,0.002160938,0.0002854867,0.004160696],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01099429,"threshold_uncertainty_score":0.05814403,"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."}}