{"id":"W4407204936","doi":"10.1016/j.jpeds.2025.114499","title":"Overlapping Clinical Phenotypes in Patients with Primary Ciliary Dyskinesia or Activated Phosphoinositide 3-Kinase Delta Syndrome","year":2025,"lang":"en","type":"article","venue":"The Journal of Pediatrics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute for Clinical Evaluative Sciences; McGill University Health Centre","funders":"National Center for Advancing Translational Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Center for Mendelian Genomics, University of Washington; National Institutes of Health; Rare Diseases Clinical Research Network; The Women's Foundation; National Human Genome Research Institute; University of North Carolina; Cystic Fibrosis Foundation","keywords":"Medicine; Primary ciliary dyskinesia; Phenotype; Dyskinesia; Delta; Pediatrics; Bioinformatics; Genetics; Internal medicine; Bronchiectasis; Disease; Gene","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":[0.0004405637,0.001181788,0.0007825441,0.001469719,0.0007629796,0.0007793716,0.0005201718,0.001185094,0.003922809],"category_scores_gemma":[0.003667491,0.0002933116,0.0003854287,0.001169041,0.001102425,0.0005541462,0.001152291,0.0006167846,0.0005589174],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002790566,"about_ca_system_score_gemma":0.0005754738,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001708552,"about_ca_topic_score_gemma":0.001808056,"domain_scores_codex":[0.9989599,0.0001738461,0.000133862,0.0002501303,0.0002396366,0.000242614],"domain_scores_gemma":[0.9986547,0.000432264,0.0003477653,0.00006385503,0.0001221141,0.0003792286],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009762598,0.0001606665,0.8111147,0.0001177934,0.00007243211,0.1616311,0.0009584735,0.0003926392,0.009358321,0.0008717471,0.001168649,0.01317723],"study_design_scores_gemma":[0.00007666294,0.0003109661,0.6263788,0.0000776287,0.00007325882,0.368939,0.000893524,0.0003955658,0.000811762,0.0009901257,0.001022746,0.00003005378],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921163,0.0007492035,0.0004778498,0.0002689913,0.00003141741,0.00005860869,0.0003127746,0.00003087663,0.005953951],"genre_scores_gemma":[0.9986999,0.0002551427,0.0003324098,0.0001277651,0.00002973373,0.00001756875,0.0002858853,0.000009548741,0.0002419941],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003922809,"threshold_uncertainty_score":0.01312315,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01267805510221806,"score_gpt":0.3036037354230173,"score_spread":0.2909256803207992,"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."}}