{"id":"W4313544423","doi":"10.1164/rccm.202207-1331oc","title":"Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants","year":2023,"lang":"en","type":"article","venue":"American Journal of Respiratory and Critical Care Medicine","topic":"Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis","field":"Medicine","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; University of British Columbia","funders":"National Institute of Environmental Health Sciences; National Institute of Diabetes and Digestive and Kidney Diseases; Evans Medical Foundation; U.S. Department of Veterans Affairs; School of Medicine, Boston University; AstraZeneca; National Heart, Lung, and Blood Institute; Pfizer; National Center for Advancing Translational Sciences; National Human Genome Research Institute; COPD Foundation; GlaxoSmithKline; Sunovion; U.S. Department of Defense","keywords":"Medicine; Exome sequencing; Genome-wide association study; Minor allele frequency; Missing heritability problem; Genetics; Heritability; Genetic association; Idiopathic pulmonary fibrosis; Exome; Allele; SNP; Single-nucleotide polymorphism; Gene; Allele frequency; Bioinformatics; Biology; Internal medicine; Genotype; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004716768,0.0002842259,0.0009781511,0.0003320046,0.0001998052,0.0000278541,0.0001180935,0.0001086871,0.00006372029],"category_scores_gemma":[0.0007760204,0.0001999854,0.0001079327,0.0007161668,0.001381249,0.0001458201,0.00006504449,0.0005030704,0.000003415188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006574242,"about_ca_system_score_gemma":0.0001944056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003436631,"about_ca_topic_score_gemma":0.000002300499,"domain_scores_codex":[0.9976735,0.0002882442,0.0006359824,0.0003358886,0.0006537735,0.000412647],"domain_scores_gemma":[0.9977803,0.0003806998,0.000244279,0.000235599,0.0006128034,0.000746377],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.03852718,0.001099301,0.4850231,0.004205787,0.001581292,0.0728963,0.01193088,0.00001047909,0.03754422,0.0008183285,0.005165332,0.3411978],"study_design_scores_gemma":[0.003945883,0.08232415,0.8768737,0.009907948,0.002364531,0.004449162,0.01726382,0.0003980078,0.0001607125,0.0003113271,0.001424218,0.0005765766],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9845012,0.01118849,0.00007221519,0.003378898,0.0001716208,0.0001675083,0.00006860225,0.00004747873,0.000403942],"genre_scores_gemma":[0.9952173,0.0004471323,0.00008283532,0.003652715,0.0005169907,0.000006269641,0.00001254804,0.0000413121,0.00002291271],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3918506,"threshold_uncertainty_score":0.8155168,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01626273897431043,"score_gpt":0.283208533789117,"score_spread":0.2669457948148066,"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."}}