{"id":"W4311684828","doi":"10.1101/2022.12.15.22283542","title":"Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for <i>NF1</i> and <i>SKAP1</i> as susceptibility genes","year":2022,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Health and Medical Research Council; Medical Research Council; QIMR Berghofer Medical Research Institute; National Institutes of Health; Cancer Research UK; Wellcome Trust; Canadian Institutes of Health Research; Genome Canada; Ovarian Cancer Research Fund","keywords":"Biology; Endometrial cancer; Genome-wide association study; Genetics; Alternative splicing; Single-nucleotide polymorphism; Quantitative trait locus; Locus (genetics); RNA splicing; Expression quantitative trait loci; Gene; Cancer; Exon; 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":[0.001511761,0.0004803034,0.0003859799,0.001534157,0.0005772295,0.0009723105,0.0003170925,0.0003221925,0.004104897],"category_scores_gemma":[0.002058918,0.0002246225,0.001068857,0.001095416,0.0001946353,0.0002681618,0.0006601888,0.0004576801,0.001437124],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002825858,"about_ca_system_score_gemma":0.0006330386,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001619617,"about_ca_topic_score_gemma":0.004268506,"domain_scores_codex":[0.9993958,0.00009962059,0.00006190222,0.0002449696,0.0001380243,0.00005955003],"domain_scores_gemma":[0.9989197,0.000431236,0.0002653744,0.0001138758,0.0001786695,0.00009114925],"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":[0.0025481,0.0001454298,0.3505141,0.001319436,0.0008214719,0.003317676,0.0009825156,0.008406341,0.5023708,0.003823545,0.01220967,0.113541],"study_design_scores_gemma":[0.0004507089,0.0007705138,0.473194,0.0007370118,0.001612434,0.006460718,0.001175946,0.1979119,0.2285389,0.01681534,0.07213105,0.0002014607],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8476827,0.001776775,0.1113137,0.0006028361,0.0001715625,0.0001688497,0.02582471,0.007083322,0.005375593],"genre_scores_gemma":[0.8300707,0.0006271048,0.1417165,0.0003191449,0.00006000714,0.0001084728,0.02407866,0.001051627,0.001967785],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004104897,"threshold_uncertainty_score":0.01373219,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01427211622781436,"score_gpt":0.302544886085731,"score_spread":0.2882727698579166,"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."}}