{"id":"W7046507338","doi":"","title":"Diagnostic Pipeline for Patients with Genetic Neuromuscular Disease","year":2024,"lang":"en","type":"dissertation","venue":"eScholarship@McGill (McGill)","topic":"Magnetic confinement fusion research","field":"Physics and Astronomy","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Genome Alberta; Canada Research Chairs; Genome British Columbia; Muscular Dystrophy Canada; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; University of Ottawa","keywords":"Pipeline (software); Neuromuscular disease; Disease; Neuromuscular transmission; Myasthenia gravis","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.001570322,0.0005443015,0.0004545037,0.001813952,0.0007207686,0.001610613,0.0007690793,0.0008101043,0.03511516],"category_scores_gemma":[0.006529217,0.0002698808,0.0005905483,0.0006789827,0.0002343967,0.0006983925,0.001520556,0.00152985,0.01536235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001491144,"about_ca_system_score_gemma":0.003320242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008522174,"about_ca_topic_score_gemma":0.008710878,"domain_scores_codex":[0.9993697,0.0001200891,0.0000618515,0.0001071909,0.0002086678,0.0001324945],"domain_scores_gemma":[0.9963706,0.0009523227,0.0001936803,0.0001378653,0.001540677,0.0008049051],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003629709,0.0001074162,0.02866308,0.0002268299,0.00002386662,0.001195733,0.0003967136,0.0003100747,0.002521735,0.002115587,0.5903251,0.373751],"study_design_scores_gemma":[0.0001868427,0.0003765135,0.08094092,0.001608401,0.0001649516,0.003894686,0.00152294,0.002411066,0.006490369,0.009836865,0.8924795,0.00008701903],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.106247,0.05692092,0.04992517,0.3618055,0.01144933,0.002150243,0.04387901,0.01429514,0.3533277],"genre_scores_gemma":[0.5258896,0.03914157,0.1332722,0.07052881,0.009982103,0.002061421,0.03759392,0.002365236,0.1791651],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.03511516,"threshold_uncertainty_score":0.1174719,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00699911123945501,"score_gpt":0.2307246520615562,"score_spread":0.2237255408221012,"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."}}