{"id":"W4412166698","doi":"10.1017/cjn.2025.10237","title":"P.071 The value of genetics, biopsy and EMG in diagnosing congenital myopathies","year":2025,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Muscle biopsy; Value (mathematics); Medicine; Biopsy; Genetics; Pathology; Biology; Computer science; Machine learning","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001719703,0.0001653332,0.000141046,0.0008279482,0.0002158049,0.0004625308,0.0003164345,0.0003696293,0.005661887],"category_scores_gemma":[0.007930008,0.00009696365,0.0001455445,0.0005086086,0.0003516603,0.0004908527,0.0002612239,0.0004089969,0.001277889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002502101,"about_ca_system_score_gemma":0.0003728644,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001642444,"about_ca_topic_score_gemma":0.0017984,"domain_scores_codex":[0.9991259,0.0002953966,0.0001511072,0.000104341,0.0002435839,0.00007966522],"domain_scores_gemma":[0.9935353,0.003708549,0.001139319,0.0001321243,0.001000894,0.000483869],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002737224,0.00002862879,0.9809042,0.00004706038,0.00001690961,0.00132907,0.00004097245,0.00007161965,0.0005360743,0.00005448048,0.00108619,0.01561116],"study_design_scores_gemma":[0.00002257459,0.0003568407,0.9729034,0.0001420442,0.00004035313,0.02184774,0.0002781133,0.0008849283,0.0009207929,0.0001631701,0.002431417,0.000008597029],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.987485,0.003135761,0.0009092379,0.0008975199,0.0001136667,0.00003463186,0.00100438,0.00003074888,0.006388996],"genre_scores_gemma":[0.9976552,0.0003196471,0.001104692,0.0001173096,0.00006701746,0.000009406786,0.0004134826,0.000009167652,0.0003040951],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005661887,"threshold_uncertainty_score":0.01894087,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01404278099740829,"score_gpt":0.2561215474073181,"score_spread":0.2420787664099098,"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."}}