{"id":"W4324324645","doi":"10.1164/rccm.202209-1653oc","title":"Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients","year":2023,"lang":"en","type":"article","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Cystic Fibrosis Canada; National Institutes of Health; Government of Canada; Canadian Institutes of Health Research; Genome Canada; Government of Ontario; North Carolina State University; Cystic Fibrosis Foundation","keywords":"Genome-wide association study; Single-nucleotide polymorphism; Genetic association; Medicine; Transcriptome; Candidate gene; Genetics; Genotype; Cystic fibrosis; Locus (genetics); Bioinformatics; Biology; Gene; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0005560595,0.0003017742,0.0004597365,0.0007232532,0.0005421749,0.0005084777,0.0003426578,0.0004610344,0.001393378],"category_scores_gemma":[0.001244046,0.0002672822,0.000611737,0.001107247,0.0002604969,0.0002337272,0.0004713311,0.0004724998,0.000233484],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003078035,"about_ca_system_score_gemma":0.0003606906,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009006777,"about_ca_topic_score_gemma":0.008387743,"domain_scores_codex":[0.9995508,0.0001029265,0.00003337599,0.0001726044,0.00007507422,0.00006521019],"domain_scores_gemma":[0.9995646,0.0001426206,0.00009209455,0.0000622784,0.00004586003,0.00009247819],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003695872,0.0000430671,0.9934199,0.00001810106,0.0002767472,0.0003144068,0.0001185643,0.0001558647,0.002614875,0.00003017067,0.0002731989,0.002365509],"study_design_scores_gemma":[0.00002354826,0.00008458094,0.9987338,0.000003075767,0.00008380788,0.0003609236,0.00006201443,0.0001941004,0.0001934423,0.00001870504,0.0002381972,0.000003850551],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979758,0.0001174794,0.0001772939,0.00002813674,0.000001924002,0.000009277353,0.001549424,0.000006912217,0.0001337904],"genre_scores_gemma":[0.9971185,0.00006749472,0.000297546,0.00003747319,0.000005271477,0.00001809539,0.002250167,0.00000627952,0.0001992393],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009006777,"threshold_uncertainty_score":0.01790869,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01494837351193495,"score_gpt":0.3278294064871319,"score_spread":0.312881032975197,"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."}}