{"id":"W2154392638","doi":"10.1513/annalsats.201306-194oc","title":"The Role of Molecular Genetic Analysis in the Diagnosis of Primary Ciliary Dyskinesia","year":2014,"lang":"en","type":"article","venue":"Annals of the American Thoracic Society","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":62,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Institute for Clinical Evaluative Sciences; University of Toronto; St. Michael's Hospital","funders":"NIH Office of the Director; National Heart, Lung, and Blood Institute; University of North Carolina at Chapel Hill; National Institutes of Health","keywords":"Primary ciliary dyskinesia; Cilium; Medicine; Pathology; Biopsy; Genetic analysis; Genetic testing; Molecular genetics; Kartagener Syndrome; Ultrastructure; Gene; Genetics; Biology; Bronchiectasis; Internal medicine; Lung","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":[0.003570574,0.0006261052,0.0003290426,0.002282009,0.0003230735,0.0007401265,0.0006697279,0.0008044377,0.001236957],"category_scores_gemma":[0.02220948,0.0002561705,0.0002011869,0.0005328475,0.001178733,0.0008030682,0.0005364993,0.0006406023,0.0005159859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003337408,"about_ca_system_score_gemma":0.0003992228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001310539,"about_ca_topic_score_gemma":0.001178113,"domain_scores_codex":[0.9985555,0.000662189,0.0001713101,0.0001309239,0.0003857922,0.00009426843],"domain_scores_gemma":[0.9886359,0.00747929,0.00137966,0.0004422239,0.001598448,0.0004645662],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003715387,0.00008175856,0.9289498,0.0001106883,0.00005374389,0.003816312,0.00007843097,0.0006682552,0.00601943,0.0001792938,0.0009451311,0.0587256],"study_design_scores_gemma":[0.0001099533,0.001107093,0.8684867,0.0007299061,0.0004107903,0.09249283,0.0006661925,0.01860582,0.01097824,0.002122871,0.004221787,0.00006780837],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9702942,0.016441,0.006388,0.002440459,0.0001614475,0.0001080607,0.0001890788,0.0001011977,0.003876473],"genre_scores_gemma":[0.9923132,0.002272995,0.004861039,0.000202527,0.0001797066,0.00001335017,0.00005262129,0.000008747319,0.0000958693],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003570574,"threshold_uncertainty_score":0.01888323,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02924586965678258,"score_gpt":0.3709062350123993,"score_spread":0.3416603653556167,"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."}}