{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001199697,0.0001765546,0.000308545,0.0001229446,0.0000458579,0.00002838779,0.0003498646,0.0001303601,0.0001986338],"category_scores_gemma":[0.0000469573,0.0001772142,0.0002127161,0.0003385423,0.0001209709,0.00000340879,0.0001650065,0.00007388269,0.00003654021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002683007,"about_ca_system_score_gemma":0.00009816058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004154202,"about_ca_topic_score_gemma":0.0001281903,"domain_scores_codex":[0.9985313,0.00004386296,0.0003823731,0.0005269728,0.0002796006,0.0002358592],"domain_scores_gemma":[0.9984906,0.00002047322,0.0001862939,0.0008702235,0.0003443673,0.0000880838],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003315985,0.0001742371,0.04131418,0.00002331974,0.001023932,4.036183e-7,0.0001227593,0.01085389,0.9460742,0.00008243629,0.00003512733,0.0002622897],"study_design_scores_gemma":[0.0003913642,0.0002204017,0.02706602,0.00001031068,0.0006053813,0.000001444966,0.00009953116,0.0215289,0.9492877,0.00005411204,0.0005092773,0.0002255764],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945441,0.0006452231,0.003243197,0.00003716744,0.0001001738,0.000298877,0.0001120113,0.000008594178,0.001010652],"genre_scores_gemma":[0.9966041,0.0004023742,0.001827759,0.0001141906,0.00009534145,0.00002216871,0.0001699061,0.00002507665,0.0007390385],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01424816,"threshold_uncertainty_score":0.7226585,"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."}}