{"id":"W4392875948","doi":"10.1016/j.neurol.2024.02.134","title":"Stratégie de diagnostic moléculaire de l’ataxie tardive SCA27B : mise en évidence de 140 porteurs d’expansions introniques FGF14 (GAA) ≥ 250 dans une cohorte française","year":2024,"lang":"fr","type":"article","venue":"Revue Neurologique","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01045751,0.0008981435,0.001822783,0.004179268,0.001348249,0.003244675,0.00215736,0.001836189,0.003177026],"category_scores_gemma":[0.01742221,0.0006321787,0.00163476,0.002302851,0.0007431655,0.002297048,0.0009781781,0.001593305,0.0007348792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002456716,"about_ca_system_score_gemma":0.004235063,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0515475,"about_ca_topic_score_gemma":0.05112778,"domain_scores_codex":[0.9957408,0.001382259,0.0006367773,0.001175239,0.0006560748,0.0004088649],"domain_scores_gemma":[0.9897239,0.004960765,0.001701749,0.0005067871,0.002381802,0.0007250018],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004825216,0.00008367704,0.9615725,0.0001602019,0.0006805478,0.0005888232,0.0004365263,0.0005292977,0.001834977,0.00034991,0.00209397,0.03118719],"study_design_scores_gemma":[0.0002338526,0.0007259987,0.963717,0.001429807,0.002364989,0.005405503,0.00272617,0.005210703,0.003619176,0.001955661,0.01247299,0.0001382402],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9402353,0.03195633,0.008653781,0.009794219,0.0003989189,0.000178185,0.003027722,0.0001463151,0.005609236],"genre_scores_gemma":[0.9827975,0.004785158,0.007618956,0.001354511,0.0002092525,0.0001308989,0.001815105,0.00004834972,0.001240261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0515475,"threshold_uncertainty_score":0.1024949,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01531210459950782,"score_gpt":0.2728189593205245,"score_spread":0.2575068547210167,"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."}}