{"id":"W3009285026","doi":"10.3389/fgene.2020.00109","title":"Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing","year":2020,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cytodiagnostics (Canada); Western University","funders":"National Institute of General Medical Sciences; Natural Sciences and Engineering Research Council of Canada; Canada Research Chairs","keywords":"International HapMap Project; Biology; Genetics; Single-nucleotide polymorphism; SNP genotyping; Gene; RNA splicing; DNA microarray; Intron; Exon; Alternative splicing; Genotype; Gene expression; RNA","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":[0.0001938884,0.0001905904,0.0002382057,0.0001408382,0.00004477402,0.00003348746,0.0004177801,0.0001586792,0.00001555447],"category_scores_gemma":[0.0001158736,0.0001988557,0.00003651314,0.0002263101,0.00004599609,0.000003754245,0.0002797093,0.0002115718,0.000008114391],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005757812,"about_ca_system_score_gemma":0.00005801342,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004074618,"about_ca_topic_score_gemma":0.0000852698,"domain_scores_codex":[0.9983268,0.0001095667,0.0002877664,0.0005776962,0.0002208951,0.000477236],"domain_scores_gemma":[0.9992916,0.000009585439,0.00006611909,0.0003174545,0.00005857995,0.0002566516],"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":[0.0004865531,0.00003359652,0.0146131,0.00001640506,0.00002043707,0.00004759436,0.0007381887,0.002282168,0.9543617,0.000004550082,0.02196846,0.005427251],"study_design_scores_gemma":[0.003373054,0.001025198,0.04895138,0.0001225076,0.000007446678,0.000004827236,0.0009995832,0.01887027,0.8426558,0.00005416972,0.08332072,0.0006150137],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805977,0.00172125,0.01553906,0.0008716061,0.0002517923,0.0005345463,0.00005509147,0.00001180569,0.0004171088],"genre_scores_gemma":[0.9739894,0.003453028,0.02054945,0.0008903335,0.0005332098,0.00005086208,0.0001179875,0.0000488314,0.0003669478],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1117059,"threshold_uncertainty_score":0.8109101,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02266197027204037,"score_gpt":0.2585555933909713,"score_spread":0.235893623118931,"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."}}