{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001212475,0.0003662552,0.0002555977,0.001372971,0.000308461,0.0003810245,0.0003903418,0.0003601462,0.0009229915],"category_scores_gemma":[0.001983078,0.0001009686,0.0001696062,0.0006416368,0.0003042926,0.0001293539,0.0002450878,0.000340028,0.0002224719],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002061114,"about_ca_system_score_gemma":0.002078087,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.07564678,"about_ca_topic_score_gemma":0.1240128,"domain_scores_codex":[0.9995441,0.00008135601,0.00003518795,0.00006683719,0.0002115546,0.00006099458],"domain_scores_gemma":[0.9993197,0.0002077211,0.0001046505,0.00002503892,0.0002325795,0.0001104725],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007679,0.0002293109,0.7123166,0.0005069566,0.0003132658,0.004511789,0.0004878716,0.002615864,0.07165011,0.000675188,0.009515459,0.1964098],"study_design_scores_gemma":[0.0001535723,0.0005169049,0.9230132,0.0003509858,0.0003325806,0.01298997,0.0006178243,0.01042685,0.02995143,0.001083227,0.02051298,0.00005050209],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9436514,0.03085308,0.01244979,0.001965533,0.0001956326,0.0004430549,0.002261232,0.0003669031,0.007813413],"genre_scores_gemma":[0.9697555,0.00586983,0.01967623,0.001427482,0.00005205881,0.00009123466,0.001417217,0.00002672344,0.001683794],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07564678,"threshold_uncertainty_score":0.150413,"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."}}