{"id":"W4313581147","doi":"10.7759/cureus.33337","title":"Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child","year":2023,"lang":"en","type":"article","venue":"Cureus","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trinity College","funders":"","keywords":"Medicine; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Mutation; Genetics; Genetic testing; Gene; Population; Compound heterozygosity; Internal medicine; Biology","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":[0.000185756,0.0009914614,0.0004558935,0.001392731,0.001454355,0.0006269448,0.0006080174,0.001867771,0.002914252],"category_scores_gemma":[0.001656919,0.0003241975,0.0004609021,0.0005446829,0.001106986,0.0007714928,0.001011951,0.001559992,0.0006136365],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007947671,"about_ca_system_score_gemma":0.000503149,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003602436,"about_ca_topic_score_gemma":0.00360793,"domain_scores_codex":[0.9997169,0.00003490484,0.00002941778,0.00007700718,0.00006401324,0.00007772908],"domain_scores_gemma":[0.9995019,0.0001577109,0.00007109137,0.00002354301,0.00005724486,0.0001884193],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00006606229,0.00005088004,0.02462037,0.00004475783,0.000005385647,0.9653477,0.0008599701,0.0001091643,0.004534305,0.0002869421,0.0005930357,0.003481419],"study_design_scores_gemma":[0.000006144016,0.0001077351,0.01930543,0.00005791947,0.00001522671,0.9757369,0.0006956786,0.0003978834,0.001831542,0.0002375253,0.001586087,0.00002207904],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908326,0.0008811898,0.0007810792,0.002415192,0.0001000896,0.00003514939,0.000123761,0.00004646507,0.004784392],"genre_scores_gemma":[0.9960924,0.0006426512,0.001223423,0.0007635469,0.00005956583,0.00001093876,0.00006192065,0.00002365642,0.00112174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003602436,"threshold_uncertainty_score":0.009749115,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0608803337337075,"score_gpt":0.3404986520796364,"score_spread":0.2796183183459289,"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."}}