{"id":"W2916086954","doi":"10.1371/journal.pgen.1008007","title":"Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci","year":2019,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":true,"ca_institutions":"Wilfrid Laurier University; Ontario Institute for Cancer Research; Hospital for Sick Children; Public Health Ontario; SickKids Foundation; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Ontario Genomics; National Institutes of Health; Fondation Pierre Deniker pour la Recherche et la Prévention en Santé Mentale; Association Vaincre la Mucoviscidose; National Heart, Lung, and Blood Institute; Hospital for Sick Children; National Human Genome Research Institute; Agence Nationale de la Recherche; GIS-Institut des Maladies Rares; Ontario Genomics Institute; Cystic Fibrosis Canada; Genome Canada; Cystic Fibrosis Foundation","keywords":"Biology; Locus (genetics); Genetics; Meconium Ileus; Cystic fibrosis; Genome-wide association study; Expression quantitative trait loci; Quantitative trait locus; Allele; Gene; Single-nucleotide polymorphism; Meconium; Genotype; Fetus","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002186959,0.000181175,0.0003434903,0.0001058364,0.0001159326,0.00009143363,0.00006247844,0.0001382819,0.0001093084],"category_scores_gemma":[0.0003938106,0.0001674617,0.00004302107,0.0001379998,0.00006645242,0.00008431466,0.00008035571,0.0001530496,0.00006420564],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002299863,"about_ca_system_score_gemma":0.00003470081,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001420959,"about_ca_topic_score_gemma":0.00002988,"domain_scores_codex":[0.9982736,0.00008022903,0.0003146033,0.0003632973,0.0005586577,0.0004095952],"domain_scores_gemma":[0.9989802,0.0002824783,0.0001129098,0.000213453,0.0002361153,0.0001748146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001056434,0.0000377099,0.2001727,0.0002673995,0.00008020891,0.000004500532,0.000337534,0.00003047136,0.7926941,0.0000111021,0.00009989943,0.006158786],"study_design_scores_gemma":[0.00307661,0.0009404761,0.4742983,0.0003914518,0.0004893334,0.0000582272,0.0002954745,0.05237418,0.4637626,0.0005053108,0.003385409,0.0004226191],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9814787,0.0165155,0.0006720113,0.0003098733,0.00009157242,0.0007115504,0.00005390038,0.00004680629,0.0001200941],"genre_scores_gemma":[0.9920746,0.001678051,0.004701796,0.00006353748,0.0001179466,0.00002617783,0.00005995943,0.00003221554,0.001245691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3289315,"threshold_uncertainty_score":0.6828889,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01674510067738285,"score_gpt":0.2919621770390155,"score_spread":0.2752170763616327,"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."}}