{"id":"W4392616567","doi":"10.1016/j.gimo.2024.101557","title":"P652: High-yield diagnostic testing of FGF14 repeat expansion in cerebellar ataxia across the North American population","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"Ataxia; Cerebellar ataxia; Population; Yield (engineering); Medicine; Psychology; Neuroscience; Physics","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":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0004639625,0.0002024887,0.0003404653,0.0001240507,0.000104202,0.00007205046,0.0008158968,0.00003038018,0.00003047077],"category_scores_gemma":[0.008374336,0.0001446876,0.00002625758,0.001612925,0.0003455397,0.00007306171,0.0005169478,0.0002552348,0.000009345476],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005074864,"about_ca_system_score_gemma":0.00007510112,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003987495,"about_ca_topic_score_gemma":0.004608685,"domain_scores_codex":[0.9975901,0.0003443036,0.0005861248,0.0006571222,0.0004735125,0.000348802],"domain_scores_gemma":[0.996314,0.00278432,0.0001559579,0.000614962,0.00005083475,0.00007993008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003279145,0.0000803035,0.833773,0.00008590129,0.000003734766,0.0001304249,0.001758006,0.01478318,0.1119052,0.00008155848,0.0004830798,0.03688291],"study_design_scores_gemma":[0.0003451415,0.0003472223,0.9134568,0.0003977477,0.0000194011,0.000009226292,0.0003300995,0.003187041,0.08121997,0.0003303227,0.0001932516,0.0001637885],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969971,0.0005318821,0.00007560309,0.0008997613,0.0003899957,0.000874688,0.00003570583,0.00002192165,0.0001734086],"genre_scores_gemma":[0.9981109,0.000431973,0.000474908,0.0006468641,0.0001385689,0.0000694493,0.00001519753,0.00003480526,0.00007735119],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07968383,"threshold_uncertainty_score":0.9999785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07065765515584066,"score_gpt":0.352166837915425,"score_spread":0.2815091827595843,"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."}}