{"id":"W7023848618","doi":"","title":"POLR3-related leukodystrophy: From exploring novel genetic causes and investigating clinical features to expanding the spectrum of disease","year":2022,"lang":"en","type":"dissertation","venue":"eScholarship@McGill (McGill)","topic":"User Authentication and Security Systems","field":"Computer Science","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Institutes of Health; Fondation des Etoiles; Fondation du Grand défi Pierre Lavoie; European Molecular Biology Laboratory; Canadian Institutes of Health Research; Compute Canada; Fonds de Recherche du Québec - Santé; Université Laval; BC Children's Hospital; Deutsche Forschungsgemeinschaft; Children's Hospital Foundation; McGill University Health Centre; McGill University; Children's Mercy Hospital; Faculty of Medicine, McGill University; Children's Discovery Institute; Bundesministerium für Bildung und Forschung; Teva Pharmaceutical Industries","keywords":"Disease; Identification (biology); Feature (linguistics); Population; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0008369368,0.000532896,0.0005117321,0.001522143,0.0004640695,0.0008248126,0.0004810111,0.0005929094,0.001046478],"category_scores_gemma":[0.001568561,0.0001945449,0.0003414721,0.001118983,0.0005033181,0.0005485524,0.0007442634,0.0004966152,0.0003556623],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003290874,"about_ca_system_score_gemma":0.0004955052,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0011384,"about_ca_topic_score_gemma":0.001531066,"domain_scores_codex":[0.999632,0.0000563491,0.00005466941,0.0001184576,0.00008015493,0.00005829255],"domain_scores_gemma":[0.9995188,0.0001397742,0.0001330623,0.00004721499,0.00006725327,0.00009400825],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004035908,0.0001314585,0.8725744,0.0001724288,0.00009076772,0.02483216,0.00122971,0.0004360293,0.03727641,0.0005895803,0.0006795261,0.06158394],"study_design_scores_gemma":[0.00006022172,0.0004117615,0.7564613,0.0003174135,0.0001950331,0.2170608,0.001333093,0.002737003,0.01018647,0.001661403,0.009531386,0.00004419275],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938225,0.003017938,0.001452385,0.0003254726,0.000009623737,0.00003182581,0.0001856074,0.00004650729,0.001108185],"genre_scores_gemma":[0.9923167,0.003161442,0.003226543,0.0003515944,0.00006877484,0.00002278272,0.0004472156,0.00003003553,0.0003750471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001522143,"threshold_uncertainty_score":0.004426181,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0521570161138299,"score_gpt":0.2913326249844532,"score_spread":0.2391756088706233,"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."}}