{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009785164,0.0004193338,0.0006361042,0.001144713,0.0004228209,0.0005827742,0.0002377008,0.0005109527,0.001679761],"category_scores_gemma":[0.00361838,0.0001931874,0.0005967413,0.001436122,0.0008056479,0.0002747696,0.0006354722,0.0004953633,0.0001877398],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001704375,"about_ca_system_score_gemma":0.0002108712,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001165346,"about_ca_topic_score_gemma":0.001569067,"domain_scores_codex":[0.9987161,0.0002978506,0.0001298939,0.0004961597,0.0002492026,0.0001108131],"domain_scores_gemma":[0.9965011,0.001571358,0.001263434,0.000292021,0.0001851461,0.0001868361],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006881763,0.00007379963,0.9254131,0.0002009634,0.0008082375,0.005746897,0.0002451648,0.00108696,0.03765594,0.001010975,0.0003217523,0.02674801],"study_design_scores_gemma":[0.00004234875,0.0001392402,0.9791302,0.00007058976,0.0004122462,0.01297175,0.0001450091,0.001821613,0.002795993,0.001603127,0.000845995,0.00002197749],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99302,0.001484724,0.003904014,0.0001034178,0.00001633752,0.0000152709,0.0002606345,0.0000494046,0.001146205],"genre_scores_gemma":[0.998547,0.000215623,0.0009738763,0.00002330156,0.00002076387,0.00000394259,0.0001276472,0.000006226554,0.00008151581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001679761,"threshold_uncertainty_score":0.005619347,"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."}}