{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003592566,0.0002473934,0.0002343685,0.0003929703,0.0002156435,0.0003143502,0.0001501429,0.0003663148,0.001502685],"category_scores_gemma":[0.0007941108,0.0001093035,0.0002292117,0.0006139342,0.0003182938,0.0001019035,0.00017513,0.000377646,0.0004301899],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001521361,"about_ca_system_score_gemma":0.0001161663,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000356615,"about_ca_topic_score_gemma":0.0006602348,"domain_scores_codex":[0.9995695,0.00007568899,0.00004104869,0.0001335957,0.0001195771,0.00006064388],"domain_scores_gemma":[0.9994448,0.0002435076,0.0001107494,0.00008637684,0.00007208134,0.00004241078],"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":[0.0001544666,0.00003734558,0.01873099,0.00004052982,0.00003570647,0.000348015,0.00006297894,0.0001885471,0.9779624,0.0001851725,0.00009813105,0.002155739],"study_design_scores_gemma":[0.00004970126,0.0006504262,0.4072823,0.00001282212,0.0001409549,0.002749309,0.0001562209,0.003278727,0.5801221,0.000953089,0.004583769,0.00002067948],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882967,0.0003187778,0.007729599,0.00005741742,0.0000232278,0.00003363321,0.001955635,0.0001003571,0.001484665],"genre_scores_gemma":[0.9939054,0.0001141741,0.003978653,0.0000716536,0.000008228161,0.0000517917,0.001307294,0.00002846342,0.0005344059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001502685,"threshold_uncertainty_score":0.005026996,"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."}}