{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001026239,0.00053068,0.0006970711,0.0003465647,0.001209495,0.0002738866,0.001717909,0.0002297775,0.00006008991],"category_scores_gemma":[0.001147812,0.0004796834,0.0002933546,0.0007936645,0.00008857812,0.000625731,0.0006531223,0.001320294,0.00002341174],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000235828,"about_ca_system_score_gemma":0.0001268532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001327714,"about_ca_topic_score_gemma":0.0006393385,"domain_scores_codex":[0.9952124,0.0006174875,0.00135511,0.001271979,0.0009778328,0.0005651696],"domain_scores_gemma":[0.9964464,0.0006672066,0.0008016814,0.001275885,0.0001339101,0.0006749473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"observational","study_design_scores_codex":[0.0008171967,0.001962974,0.0148416,0.002183145,0.00341881,0.0003005863,0.02273109,0.0008269516,0.1810066,0.5605937,0.00004963481,0.2112677],"study_design_scores_gemma":[0.004456851,0.001064621,0.8073654,0.003618504,0.00128066,0.00005978585,0.008691752,0.004895063,0.0520298,0.09646259,0.01514285,0.00493209],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950905,0.0006109935,0.000007308359,0.0001599868,0.002303857,0.0007232215,0.0004605426,0.0001935407,0.0004500806],"genre_scores_gemma":[0.997207,0.0001331822,0.001244532,0.0002681039,0.00007243454,0.0001922676,0.0001804994,0.00008424475,0.0006177471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7925238,"threshold_uncertainty_score":0.9997655,"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."}}