{"id":"W7104908133","doi":"10.71781/29875","title":"Caractérisation de variants génétiques pour estimer la prévalence de Niemann-Pick type C au Québec","year":2022,"lang":"fr","type":"dissertation","venue":"Papyrus : Institutional Repository (Université de Montréal)","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Population; Genetic variants; Mutation","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.001838102,0.0004744181,0.0004896762,0.001946829,0.001300643,0.001396716,0.0007428748,0.0006087413,0.005145236],"category_scores_gemma":[0.006043416,0.0002462573,0.000728168,0.003023149,0.0004078545,0.0002645525,0.0003788583,0.0006364305,0.0005687664],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004431535,"about_ca_system_score_gemma":0.004774642,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9347611,"about_ca_topic_score_gemma":0.9376579,"domain_scores_codex":[0.9992201,0.0001531945,0.00006216937,0.0002682291,0.000172112,0.0001241289],"domain_scores_gemma":[0.9964991,0.000942855,0.0003755536,0.0001828603,0.001757605,0.0002420074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000223057,0.00002042257,0.9774408,0.00009644256,0.0004294496,0.000211012,0.0004717518,0.001010931,0.001658618,0.0002010524,0.002011388,0.01622504],"study_design_scores_gemma":[0.00003177923,0.00005091885,0.9861329,0.0001278927,0.0004671616,0.0002498391,0.0006227972,0.00634897,0.0008063543,0.0001196291,0.005014542,0.0000271669],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9641486,0.004157928,0.007939485,0.000783806,0.00005917398,0.0001112516,0.01749567,0.000177186,0.005126889],"genre_scores_gemma":[0.9858087,0.000939784,0.004323159,0.0002632174,0.00001130331,0.00006447898,0.005685152,0.00004032037,0.002863883],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06523889,"threshold_uncertainty_score":0.1312461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01464094540675078,"score_gpt":0.2546832183183978,"score_spread":0.240042272911647,"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."}}