{"id":"W3212913116","doi":"10.1038/s41598-021-01966-0","title":"Estimated prevalence of Niemann–Pick type C disease in Quebec","year":2021,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill University; Université de Montréal","funders":"Université de Montréal; Fonds de Recherche du Québec - Santé; Compute Canada","keywords":"Exome sequencing; NPC1; Population; Disease; Haplotype; Medicine; Founder effect; Exome; Demography; Pediatrics; Genetics; Biology; Gene; Allele; Internal medicine; Environmental health; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0007275659,0.0004201419,0.0004835943,0.002086626,0.001313992,0.001144302,0.0007621729,0.0003832457,0.00755658],"category_scores_gemma":[0.002333439,0.0002035376,0.0006255404,0.002277288,0.0003643672,0.0003917689,0.0003753645,0.0005235423,0.00049731],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01637717,"about_ca_system_score_gemma":0.006512255,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9855049,"about_ca_topic_score_gemma":0.9815578,"domain_scores_codex":[0.9995013,0.00007563678,0.00004113618,0.0001384695,0.0001460677,0.00009730172],"domain_scores_gemma":[0.998104,0.0002100835,0.0002673506,0.00005254844,0.001166996,0.0001990243],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001445978,0.00002894647,0.9479885,0.0003276118,0.0005051807,0.0003094241,0.000492254,0.001048897,0.0009599292,0.0009132674,0.01763341,0.02964799],"study_design_scores_gemma":[0.00002859991,0.00003821059,0.9756599,0.0003506259,0.0002105697,0.0004774338,0.0006687704,0.003573852,0.0002929499,0.0001121725,0.01853925,0.0000477193],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8125252,0.01871607,0.005366157,0.002507555,0.0001779572,0.0003155947,0.1375724,0.0004089217,0.02241026],"genre_scores_gemma":[0.9747254,0.003243601,0.002157819,0.0004029353,0.00001960708,0.00008473124,0.01492249,0.0000432582,0.004400152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01637717,"threshold_uncertainty_score":0.1188253,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03304079100614875,"score_gpt":0.3333924281009697,"score_spread":0.3003516370948209,"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."}}