{"id":"W4366819483","doi":"10.1002/ppul.26414","title":"First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit","year":2023,"lang":"en","type":"article","venue":"Pediatric Pulmonology","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; BC Children's Hospital; University of British Columbia; Genome British Columbia; Robarts Clinical Trials; Western University; Nunavut Research Institute; McGill University; Children's Hospital of Eastern Ontario","funders":"National Center for Advancing Translational Sciences; National Heart, Lung, and Blood Institute; Rare Diseases Clinical Research Network; Genome Alberta; Genome British Columbia; Ontario Genomics Institute; Ontario Genomics; National Institutes of Health; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada; BC Children's Hospital","keywords":"Bronchiectasis; Primary ciliary dyskinesia; Medicine; Situs inversus; Population; Respiratory distress; Otitis; Kartagener Syndrome; Pediatrics; Lung; Pathology; Internal medicine; Surgery","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":[0.0002365974,0.0008360716,0.0005144706,0.001639961,0.005844054,0.001053661,0.001458946,0.001032592,0.004714179],"category_scores_gemma":[0.001346527,0.0005201696,0.0004069899,0.002089281,0.001214865,0.0002808681,0.001352314,0.0007815891,0.0003954227],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.007057173,"about_ca_system_score_gemma":0.008938196,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8932734,"about_ca_topic_score_gemma":0.9441738,"domain_scores_codex":[0.9994177,0.00002276966,0.00003794862,0.00009930273,0.0001989707,0.0002233191],"domain_scores_gemma":[0.998805,0.0001148465,0.0002259287,0.00006443967,0.0004413545,0.0003484531],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002556696,0.0001739821,0.7578318,0.0002410707,0.0001554341,0.1851683,0.01758826,0.0002197502,0.007283396,0.001020382,0.005163014,0.02489894],"study_design_scores_gemma":[0.00007506506,0.0004215097,0.5783952,0.0002717368,0.0003482488,0.3710034,0.01657499,0.001067977,0.002388992,0.0004221929,0.02883045,0.000200213],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840301,0.0007326927,0.0006138521,0.0005465248,0.00008234291,0.00008892225,0.0005713611,0.00004603206,0.01328816],"genre_scores_gemma":[0.9968556,0.0004304828,0.0004786809,0.0002447249,0.00002265077,0.000009097908,0.0002482197,0.00002040515,0.001690099],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1067266,"threshold_uncertainty_score":0.2147102,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01271432847754497,"score_gpt":0.2641133385313569,"score_spread":0.251399010053812,"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."}}