{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0007123514,0.0001736037,0.0003656439,0.0002872092,0.0001433459,0.00001279194,0.0004044676,0.00002428242,0.0009931714],"category_scores_gemma":[0.001244424,0.0001318469,0.00006655759,0.0004313255,0.0001008225,0.00009044498,0.0001289176,0.0005829976,0.000007127437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001002135,"about_ca_system_score_gemma":0.0002289179,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004058819,"about_ca_topic_score_gemma":0.00004277323,"domain_scores_codex":[0.997188,0.0007580417,0.0006046173,0.0002854578,0.0008655979,0.0002982915],"domain_scores_gemma":[0.9986655,0.00039801,0.0003362925,0.0002711117,0.00005438624,0.0002747015],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002027251,0.0003796788,0.02609121,0.00003700391,0.00001975972,0.003066114,0.004774931,0.04854047,0.8299941,0.0001010418,0.03643747,0.04853094],"study_design_scores_gemma":[0.1396071,0.01167967,0.03282614,0.000419791,0.0003049779,0.007651815,0.001751162,0.005369833,0.5540955,0.007364332,0.2378697,0.001059917],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922508,0.001553694,0.0001989486,0.004577544,0.001024353,0.0001416233,0.000007391458,0.00001168114,0.0002339676],"genre_scores_gemma":[0.9952607,0.0005524987,0.00007126787,0.002804254,0.000881077,0.000003727402,0.0000043201,0.0000224557,0.0003996572],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2758986,"threshold_uncertainty_score":0.9999201,"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."}}