{"id":"W4401989927","doi":"10.1155/2024/7377504","title":"Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases","year":2024,"lang":"en","type":"article","venue":"Human Mutation","topic":"Inflammatory Myopathies and Dermatomyositis","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Alliance de recherche numérique du Canada; Natural Sciences and Engineering Research Council of Canada; European Commission; Canada Foundation for Innovation; Canada First Research Excellence Fund; Canada Research Chairs; Government of Canada; Canada Research Coordinating Committee","keywords":"Biology; Myopathy; Population; Database; Genetics; Environmental health; Computer science; Medicine","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":[0.00519525,0.0005439371,0.001201355,0.00971352,0.0002994322,0.001163287,0.001059492,0.0007798605,0.002083839],"category_scores_gemma":[0.01775915,0.000330531,0.001271816,0.00549305,0.0002864501,0.0007907528,0.0007113019,0.0005432946,0.0005831798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004259414,"about_ca_system_score_gemma":0.0008801088,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003440374,"about_ca_topic_score_gemma":0.00335305,"domain_scores_codex":[0.9961356,0.0008349588,0.0009621312,0.001199735,0.0007713407,0.0000962764],"domain_scores_gemma":[0.9875387,0.007781954,0.00230996,0.0007072992,0.001484371,0.0001776774],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006703128,0.0001407113,0.6406186,0.01415871,0.004970105,0.002166611,0.0006698278,0.009420325,0.008689649,0.004239648,0.01549671,0.2987589],"study_design_scores_gemma":[0.0003221808,0.0006513287,0.8101262,0.004362459,0.01058441,0.01253785,0.0008152172,0.0269222,0.009462008,0.01265314,0.1112778,0.0002852112],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5571012,0.0798483,0.1598029,0.001377007,0.0002784316,0.0009122558,0.1892174,0.001813472,0.009649033],"genre_scores_gemma":[0.7033563,0.03829502,0.1029928,0.0005551033,0.0002346044,0.000970718,0.152549,0.0001677785,0.0008786751],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00971352,"threshold_uncertainty_score":0.02747542,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03737488892876827,"score_gpt":0.3360544170336307,"score_spread":0.2986795281048624,"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."}}