{"id":"W2336705196","doi":"10.1038/gim.2015.105","title":"Bias in CFTR screening panels","year":2015,"lang":"en","type":"letter","venue":"Genetics in Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institute for Clinical Evaluative Sciences; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Vertex Pharmaceuticals; Cystic Fibrosis Foundation","keywords":"Exome sequencing; Cystic fibrosis; Penetrance; Exome; Population; Medicine; Mutation; Genetics; Phenotype; Biology; 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":[0.02351602,0.0004893697,0.001697721,0.001520364,0.004480755,0.00531982,0.00253094,0.06106662,0.008433536],"category_scores_gemma":[0.1882523,0.0009501749,0.001331388,0.001266288,0.005797841,0.004018316,0.00325077,0.03343614,0.003992473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006316851,"about_ca_system_score_gemma":0.006780047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008546843,"about_ca_topic_score_gemma":0.01494985,"domain_scores_codex":[0.9687709,0.01479773,0.003248124,0.003277361,0.006871344,0.003034462],"domain_scores_gemma":[0.8733347,0.0971491,0.00718196,0.003622149,0.008728346,0.009983682],"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":[0.0001591653,0.00004781739,0.01585533,0.0001366019,0.00009789209,0.006816444,0.0006750603,0.0001887571,0.0003497488,0.01773369,0.9220315,0.03590803],"study_design_scores_gemma":[0.0005497513,0.0002668432,0.01605352,0.002744059,0.0003740836,0.03356972,0.001753486,0.002829744,0.001375534,0.1212226,0.8190464,0.0002143262],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0009505065,0.0008619104,0.000157211,0.9904157,0.003802098,0.000006149333,0.00003316268,0.00001278322,0.003760574],"genre_scores_gemma":[0.01184974,0.000384364,0.0002127732,0.9708452,0.01543832,0.00001580589,0.00002025323,0.00001564107,0.001217977],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.06106662,"threshold_uncertainty_score":0.124366,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1820735169201729,"score_gpt":0.4039644739219915,"score_spread":0.2218909570018186,"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."}}