{"id":"W2955107470","doi":"10.1371/journal.pgen.1008229","title":"Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene","year":2019,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institutes of Health; National Heart, Lung, and Blood Institute; Sunovion; GlaxoSmithKline; COPD Foundation; AstraZeneca; Pfizer","keywords":"Genome-wide association study; Expression quantitative trait loci; Single-nucleotide polymorphism; Biology; Genetics; Quantitative trait locus; Alternative splicing; RNA splicing; Genetic association; splice; Locus (genetics); Gene; Candidate gene; Exon; RNA; Genotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004374191,0.0003060793,0.000320425,0.000682076,0.0002549403,0.0002129777,0.0002735012,0.0004815503,0.001813393],"category_scores_gemma":[0.000719807,0.0001808178,0.000519124,0.0004078179,0.0002571366,0.00009272374,0.0002868708,0.0004537682,0.0002210161],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001909244,"about_ca_system_score_gemma":0.0001566772,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001429357,"about_ca_topic_score_gemma":0.002094499,"domain_scores_codex":[0.9997296,0.00004702299,0.00002021516,0.00009947118,0.00007477587,0.00002892497],"domain_scores_gemma":[0.9996654,0.0001722905,0.00008648799,0.00002532317,0.00001447742,0.00003602988],"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":[0.001343694,0.0001672887,0.2808225,0.0001094768,0.0002456232,0.00511863,0.0003166906,0.0009120295,0.694476,0.0004764742,0.0002727536,0.01573883],"study_design_scores_gemma":[0.0001166566,0.0003751837,0.9461205,0.00002388191,0.000149637,0.006471602,0.00009926022,0.009098113,0.0354603,0.0006443012,0.001416149,0.00002433609],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984669,0.0001183327,0.0008911964,0.00004843627,0.00000457023,0.000007388055,0.0003005001,0.00001815009,0.0001444407],"genre_scores_gemma":[0.9968635,0.00007074822,0.002345165,0.00005117611,0.000008475753,0.00001367147,0.0003522073,0.00001061584,0.0002846328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001813393,"threshold_uncertainty_score":0.006066382,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01755406406711518,"score_gpt":0.2746088624515815,"score_spread":0.2570547983844663,"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."}}