{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000472054,0.0001862813,0.0005725562,0.00121641,0.00005083556,0.000008354544,0.0001861343,0.0002228711,0.0003552939],"category_scores_gemma":[0.001461163,0.0001877899,0.00007288099,0.001743738,0.0001000123,0.00009908969,0.0001172777,0.0003308657,0.00009928822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006286433,"about_ca_system_score_gemma":0.001751677,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1464938,"about_ca_topic_score_gemma":0.3881772,"domain_scores_codex":[0.9975132,0.00006070783,0.0006416563,0.0004948277,0.0003465985,0.0009429481],"domain_scores_gemma":[0.9984971,0.0002796432,0.0001603228,0.0005099061,0.0001116644,0.0004414133],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001311775,0.000116417,0.8999083,0.0004761766,0.0000292046,0.004661169,0.0003440522,0.00003587156,0.002605588,0.000009313391,0.09048806,0.00119465],"study_design_scores_gemma":[0.0008164961,0.0002479301,0.9682022,0.00002224899,0.00004105617,0.0001894369,0.00004174034,0.0003008547,0.00009590969,0.0002795945,0.02958392,0.0001786387],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9926072,0.002169627,0.000005925529,0.003302563,0.000170494,0.0006454631,0.0001475811,0.0001026339,0.0008485236],"genre_scores_gemma":[0.9967091,0.000944725,0.0002254429,0.0001277933,0.0001750857,0.0001318259,0.0005042469,0.00003630709,0.001145456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2416834,"threshold_uncertainty_score":0.8591897,"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."}}