{"id":"W4206116890","doi":"10.1016/j.nmd.2021.07.097","title":"DISTAL MYOPATHIES","year":2021,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Neurological Institute and Hospital","funders":"","keywords":"LMNA; Gene isoform; Exon; Genetics; Biology; Myopathy; Nonsense mutation; Phenotype; Alternative splicing; Exon skipping; Gene; Bioinformatics; Missense mutation","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":[0.0002911723,0.001410792,0.0007002095,0.001766398,0.001488126,0.0007562686,0.0006245459,0.001039216,0.03710878],"category_scores_gemma":[0.0007137753,0.0002538237,0.0003671259,0.001303704,0.0009769738,0.0005606156,0.001540684,0.0009649792,0.008566872],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005754009,"about_ca_system_score_gemma":0.0004520264,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001913074,"about_ca_topic_score_gemma":0.002848571,"domain_scores_codex":[0.9996953,0.00003064511,0.0000231913,0.00008461386,0.0000747892,0.00009140681],"domain_scores_gemma":[0.9997351,0.00003597546,0.00005602145,0.00003876935,0.0000531023,0.00008099652],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001829589,0.0002795441,0.06335764,0.002696525,0.0003657655,0.2562565,0.00142683,0.0009549487,0.169857,0.03289102,0.04920648,0.4208781],"study_design_scores_gemma":[0.0001867006,0.0005252909,0.1185538,0.000823472,0.0003545632,0.5667038,0.0007365551,0.0008729883,0.02366928,0.009023795,0.2784681,0.00008169239],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"empirical","genre_scores_codex":[0.4358669,0.04773662,0.02135948,0.004221158,0.001194026,0.0004059827,0.005368073,0.002482472,0.4813653],"genre_scores_gemma":[0.8076191,0.0112806,0.004641372,0.002284359,0.0005413001,0.0001069897,0.002898779,0.0003275399,0.1703001],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03710878,"threshold_uncertainty_score":0.1241412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002459936182350259,"score_gpt":0.1876902139755284,"score_spread":0.1852302777931781,"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."}}