{"id":"W4405385577","doi":"10.1183/13993003.01888-2024","title":"Genes take the lead: genetic testing becomes the gold standard for diagnosing primary ciliary dyskinesia","year":2024,"lang":"en","type":"letter","venue":"European Respiratory Journal","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; McGill University Health Centre","funders":"","keywords":"Primary ciliary dyskinesia; Medicine; Gold standard (test); Dyskinesia; Lead (geology); Genetic testing; Internal medicine; Bronchiectasis","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0008153411,0.0005282296,0.0007616063,0.0006334619,0.001134646,0.001347987,0.0008621287,0.01209814,0.007688949],"category_scores_gemma":[0.009650021,0.0002483726,0.0007332954,0.0003851488,0.001206135,0.00257944,0.0007125196,0.01237939,0.01033501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001582508,"about_ca_system_score_gemma":0.0009247269,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00202535,"about_ca_topic_score_gemma":0.002087324,"domain_scores_codex":[0.9990622,0.0002466882,0.0001281251,0.0001598634,0.0002773982,0.0001257541],"domain_scores_gemma":[0.9966273,0.001484612,0.0001998002,0.0001841128,0.0008792742,0.0006247928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001285505,0.0000629819,0.005974172,0.0001417825,0.00002514438,0.05933687,0.0001523468,0.0002094359,0.001459239,0.003163504,0.8682681,0.06107789],"study_design_scores_gemma":[0.0001332417,0.000190886,0.005192893,0.001116177,0.00007418621,0.2187851,0.0005987815,0.001785189,0.001445773,0.02878172,0.7417901,0.0001059075],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.004219906,0.0065763,0.00123098,0.9522232,0.02653847,0.00002971511,0.000134597,0.0001706982,0.008876147],"genre_scores_gemma":[0.05026864,0.01168422,0.002891163,0.8023447,0.1126284,0.00004783873,0.0002801574,0.0001402065,0.01971469],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.01209814,"threshold_uncertainty_score":0.02572209,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03107146431029419,"score_gpt":0.2534047752565194,"score_spread":0.2223333109462252,"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."}}