{"id":"W4409213351","doi":"10.1002/acn3.70016","title":"FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium","year":2025,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Ottawa Hospital; Newborn Screening Ontario; SickKids Foundation; University of Toronto; University of Calgary; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"Canadian Institutes of Health Research; Hospital for Sick Children; Genome Alberta; Ontario Genomics; Canada Research Chairs; Ontario Genomics Institute; Genome British Columbia; BC Children's Hospital; Genome Canada; Children's Hospital of Eastern Ontario Foundation; CHEO Research Institute; Children’s Hospital of Wisconsin Research Institute","keywords":"Ataxia; Medicine; Spinocerebellar ataxia; Trinucleotide repeat expansion; Population; Dysarthria; Cohort; Frataxin; Gait Ataxia; Genetics; Audiology; Biology; Pathology; Internal medicine; Psychiatry; Allele; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0005702277,0.000504479,0.0003095601,0.00164378,0.001276957,0.0005758192,0.0007205873,0.0004500274,0.002146382],"category_scores_gemma":[0.001530027,0.000158904,0.0003724546,0.001358518,0.0005109941,0.0001127266,0.0005002322,0.0002756557,0.0002658982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002553272,"about_ca_system_score_gemma":0.00411539,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5781204,"about_ca_topic_score_gemma":0.7044489,"domain_scores_codex":[0.9992566,0.0000646722,0.00004047337,0.0001895133,0.0003012559,0.0001475237],"domain_scores_gemma":[0.9989932,0.0001174855,0.000204344,0.00006070796,0.0004546148,0.0001696538],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004956803,0.00007690808,0.95706,0.00006119531,0.0001769178,0.007484803,0.000781033,0.0004306291,0.01079044,0.0002688047,0.003554835,0.01881871],"study_design_scores_gemma":[0.00005061044,0.0001037299,0.981786,0.00004500193,0.0001175382,0.00913744,0.0004548003,0.0008284643,0.002297042,0.00008009724,0.005075743,0.00002357389],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995609,0.0004750952,0.0003754177,0.000112848,0.000008650341,0.00005796473,0.001661612,0.00002453775,0.001674858],"genre_scores_gemma":[0.9954072,0.0003240784,0.0008810184,0.000122142,0.00001010025,0.00002610181,0.002142175,0.0000217603,0.001065447],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4218796,"threshold_uncertainty_score":0.8487282,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06289996331162455,"score_gpt":0.3483319659542182,"score_spread":0.2854320026425937,"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."}}