{"id":"W4311448329","doi":"10.1056/nejmoa2207406","title":"Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia","year":2022,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":243,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Université de Sherbrooke; McGill Genome Centre; Université de Montréal; Children's Hospital of Eastern Ontario; Centre Hospitalier de l’Université de Montréal; McGill University; Montreal Neurological Institute and Hospital; Montreal Heart Institute","funders":"Fondation Groupe Monaco; National Institute of Neurological Disorders and Stroke; National Health and Medical Research Council; Medical Research Council; Medizinischen Fakultät, Eberhard Karls Universität Tübingen; Leonard M. Miller School of Medicine; National Institutes of Health; Fondation de l'Hôpital Général de Montréal; Universitat de Barcelona; Else Kröner-Fresenius-Stiftung; University College London Hospitals NHS Foundation Trust; Eberhard Karls Universität Tübingen; Institut National de la Santé et de la Recherche Médicale; European Commission; National Institute of Mental Health and Neurosciences; Wellcome Trust; University College London; Canadian Institutes of Health Research; Royal College of Physicians and Surgeons of Canada; McGill University; Deutsche Forschungsgemeinschaft; Genome Canada; Brain Research UK; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Canada Foundation for Innovation; Deutsches Zentrum für Neurodegenerative Erkrankungen; Ontario Genomics Institute; Génome Québec; National Institute of Mental Health; Universität Basel; Australian Government; Fondation du Grand défi Pierre Lavoie; Université de Lorraine; University of Miami","keywords":"Trinucleotide repeat expansion; Odds ratio; Ataxia; Biology; Internal medicine; Genetics; Medicine; Neuroscience; Gene; Allele","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":[0.000245756,0.0004469582,0.0001870042,0.0009765741,0.0006863333,0.0003016979,0.0003617802,0.000438201,0.00192249],"category_scores_gemma":[0.0007521538,0.0001068027,0.0001667741,0.0006670229,0.0005644009,0.0000702392,0.0001627004,0.0002851107,0.0001693873],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007640601,"about_ca_system_score_gemma":0.0008374139,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1224451,"about_ca_topic_score_gemma":0.1883589,"domain_scores_codex":[0.9998218,0.00002053303,0.00001318622,0.00006222271,0.00004814232,0.000034025],"domain_scores_gemma":[0.9995598,0.0001024518,0.0001492432,0.00002116523,0.00009824275,0.00006921806],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009098583,0.0001033668,0.9090731,0.0001029188,0.0001413599,0.01102845,0.0007012311,0.0004555252,0.0588032,0.0003386253,0.000949713,0.01739254],"study_design_scores_gemma":[0.00002994137,0.0001531257,0.9782091,0.0000280136,0.0001667298,0.01503813,0.0002427143,0.0003914247,0.004413975,0.0001017403,0.001209616,0.00001554568],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987742,0.0002187052,0.0001859622,0.00004733454,0.000003640602,0.000007842409,0.0001407067,0.000008390079,0.0006130054],"genre_scores_gemma":[0.9992163,0.00007545803,0.0002552009,0.00002907596,0.000005659055,0.000002295648,0.0001322682,0.000002767692,0.0002808664],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1224451,"threshold_uncertainty_score":0.2434648,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02039156405218099,"score_gpt":0.2591521451448091,"score_spread":0.2387605810926281,"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."}}