{"id":"W4320921963","doi":"10.1016/j.xhgg.2023.100185","title":"Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes","year":2023,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Cancer Research UK; National Health and Medical Research Council; National Cancer Institute; Seventh Framework Programme; European Research Council; National Institutes of Health; Wellcome Trust; QIMR Berghofer Medical Research Institute; Medical Research Council; Ovarian Cancer Research Foundation; Canadian Institutes of Health Research; Genome Canada","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005619527,0.0001534078,0.0002291128,0.0001018358,0.00024183,0.00005268087,0.00008259116,0.0000938614,0.000004782627],"category_scores_gemma":[0.0001159359,0.0001527596,0.00004507685,0.00009209548,0.0001477435,0.000009326167,0.0001471452,0.00005794557,2.854722e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000101429,"about_ca_system_score_gemma":0.00006234933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001529266,"about_ca_topic_score_gemma":0.0008515404,"domain_scores_codex":[0.9987886,0.00005902645,0.0002964058,0.0004452377,0.00011653,0.000294195],"domain_scores_gemma":[0.9993452,0.00005715055,0.0001707761,0.0001817625,0.0001233545,0.0001217281],"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":[0.0001886664,0.0000161648,0.03916198,0.00009171147,0.0000693746,0.000001284121,0.000144992,0.0005328877,0.9328436,0.00007081527,0.0000448398,0.02683372],"study_design_scores_gemma":[0.007193092,0.005882871,0.4137255,0.00007365136,0.0003011551,0.00003657175,0.001910139,0.005539561,0.5308299,0.01654713,0.01675021,0.001210173],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9807588,0.01787397,0.0005672495,0.00002456802,0.00006045033,0.0004386586,0.000250925,0.000006420656,0.00001897926],"genre_scores_gemma":[0.9627533,0.03539075,0.001258102,0.00002001705,0.0002154704,0.00003224855,0.0001130371,0.00002242558,0.0001946777],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4020137,"threshold_uncertainty_score":0.6229355,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01451243441710141,"score_gpt":0.3170440665799367,"score_spread":0.3025316321628353,"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."}}