{"id":"W2793685690","doi":"10.1017/cjn.2017.286","title":"Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia","year":2018,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Muscle and Compartmental Disorders","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster Children's Hospital","funders":"","keywords":"Rhabdomyolysis; Medicine; Muscular dystrophy; Neuromuscular disease; Disease; Muscle disorder; Muscle disease; Duchenne muscular dystrophy; Muscle biopsy; Internal medicine; Bioinformatics; Biopsy; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["sts"],"consensus_categories":["sts"],"category_scores_codex":[0.001859443,0.0002586857,0.0004389788,0.0007811444,0.002202478,0.00060724,0.0007050718,0.0001227232,0.000209722],"category_scores_gemma":[0.00125287,0.0001754999,0.0001629579,0.001091516,0.004288975,0.000739993,0.00005951222,0.0005898257,0.000006340482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002638845,"about_ca_system_score_gemma":0.002161935,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001922949,"about_ca_topic_score_gemma":0.05110904,"domain_scores_codex":[0.9969281,0.0003979108,0.0006172016,0.0004840579,0.0006211881,0.0009515689],"domain_scores_gemma":[0.9965929,0.000159247,0.0002878106,0.000135552,0.0003974412,0.002427029],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001851811,0.00005513208,0.9492753,0.00001474868,0.00004437158,0.007202478,0.001347621,0.0006578611,0.007901705,0.0008949948,0.00285027,0.02957034],"study_design_scores_gemma":[0.001627857,0.3204394,0.5462063,0.0002173284,0.0003031119,0.08836277,0.002222747,0.009952556,0.002985176,0.008341327,0.01824008,0.001101399],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991933,0.0008427335,0.00005132039,0.005100377,0.0005670382,0.0001892181,0.000004030964,0.00001331077,0.001298919],"genre_scores_gemma":[0.9871463,0.0002544889,0.002826508,0.009144549,0.0005984434,0.000003132438,3.44849e-7,0.000009356044,0.00001688137],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.403069,"threshold_uncertainty_score":0.9990965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07162665570339095,"score_gpt":0.2853333837353824,"score_spread":0.2137067280319915,"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."}}