{"id":"W2914530644","doi":"10.1080/01677063.2019.1566326","title":"High diagnostic yield and novel variants in very late-onset spasticity","year":2019,"lang":"en","type":"article","venue":"Journal of Neurogenetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"","keywords":"Cohort; Genetic testing; Genetics; Genotype; Biology; Phenotype; Mutation; DNA sequencing; Medicine; Internal medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007718035,0.0003754678,0.0004205257,0.001211531,0.000327288,0.0006695272,0.0004349855,0.0007808257,0.00103893],"category_scores_gemma":[0.004964833,0.0001909153,0.0002237991,0.0004285656,0.0003881158,0.0002656603,0.0005852016,0.0003962421,0.0004568094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001615005,"about_ca_system_score_gemma":0.0001082923,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002651107,"about_ca_topic_score_gemma":0.0003502303,"domain_scores_codex":[0.9990063,0.0002808789,0.0001092939,0.000222225,0.0002412607,0.0001400057],"domain_scores_gemma":[0.997,0.001734063,0.000461466,0.0002288105,0.0003123832,0.0002632397],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000732524,0.00008927697,0.8563132,0.00006606619,0.00006235867,0.02271933,0.0005985818,0.0003793443,0.08863094,0.000324136,0.0005525512,0.02953172],"study_design_scores_gemma":[0.00005344917,0.000519436,0.8044705,0.00004898475,0.0001455688,0.1435478,0.0006210717,0.002810835,0.04326406,0.00126341,0.003193264,0.00006153915],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974145,0.0003094173,0.001557031,0.00007982898,0.00001041994,0.000008448133,0.0001230435,0.00003326352,0.0004640048],"genre_scores_gemma":[0.9988756,0.0000696061,0.0007898643,0.00002743331,0.00001283348,0.000004455068,0.0001371379,0.000008467789,0.00007462397],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001211531,"threshold_uncertainty_score":0.004081726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03316971865219483,"score_gpt":0.2402264213715676,"score_spread":0.2070567027193728,"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."}}