{"id":"W4403208680","doi":"10.1093/brain/awae312","title":"Somatic instability of the <i>FGF14</i> -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum","year":2024,"lang":"en","type":"article","venue":"Brain","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Fondation Groupe Monaco; Association of British Neurologists; Medical Research Future Fund; National Cancer Institute; National Institute on Drug Abuse; Ataxia UK; Medical Research Council; Rosetrees Trust; National Institutes of Health; Alzheimer’s Research UK; Norges Idrettshøgskole; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Fondation pour la Recherche Médicale; UCLH Biomedical Research Centre; National Health and Medical Research Council; Multiple System Atrophy Coalition; Koning Boudewijnstichting; University College London Hospitals NHS Foundation Trust; Multiple System Atrophy Trust; Wellcome Trust; Friedreich's Ataxia Research Alliance; University College London Hospitals Biomedical Research Centre; Canadian Institutes of Health Research; Guarantors of Brain; Michael J. Fox Foundation for Parkinson's Research","keywords":"Trinucleotide repeat expansion; Cerebellum; Ataxia; Somatic cell; Spinocerebellar ataxia; Biology; Neuroscience; Genetics; Allele; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009551474,0.0001799276,0.0001938302,0.00007686511,0.0001122027,0.00008065379,0.0006441079,0.00004359745,0.00008786202],"category_scores_gemma":[0.004412222,0.0001010172,0.0001597516,0.0008870933,0.0002505186,0.0000940418,0.0001846716,0.0002001067,0.00002982537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000333287,"about_ca_system_score_gemma":0.0001344732,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003192567,"about_ca_topic_score_gemma":0.00006170967,"domain_scores_codex":[0.9960458,0.002171035,0.0004356839,0.0005518022,0.0005263286,0.0002693284],"domain_scores_gemma":[0.996923,0.001917366,0.00009161365,0.0009954972,0.00002510522,0.00004736543],"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":[0.00002240773,0.0001572426,0.003331731,0.000200517,0.000002352603,0.00002116443,0.001839155,0.00006208062,0.9864739,0.0006783037,0.005946663,0.001264518],"study_design_scores_gemma":[0.0003601136,0.0000824309,0.1118523,0.0002952295,0.0000215377,0.00002886448,0.000449932,0.001205378,0.8780356,0.005317712,0.00214932,0.0002015081],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908382,0.0002126879,0.00002018176,0.00597724,0.0003244063,0.0008533489,0.00005723578,0.0000474388,0.001669309],"genre_scores_gemma":[0.996398,0.00001854968,0.0000350816,0.002701894,0.00003966051,0.00007222256,0.000001483692,0.0000217477,0.0007113645],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1085206,"threshold_uncertainty_score":0.528216,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05701492905654688,"score_gpt":0.2880972161397999,"score_spread":0.231082287083253,"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."}}