{"id":"W2913367752","doi":"10.1101/549089","title":"Expression changes confirm genomic variants predicted to result in allele-specific, alternative mRNA splicing","year":2019,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Cytodiagnostics (Canada); Western University","funders":"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; Exon; DNA microarray; Genotype; Alternative splicing; Intron; 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":[0.0003272765,0.000187427,0.0001863101,0.0003476932,0.0001652413,0.0002913753,0.0001201373,0.0003105359,0.001305329],"category_scores_gemma":[0.0007477568,0.00009955348,0.0002127514,0.0004445918,0.000270781,0.00007690379,0.000147092,0.0003540601,0.0003132889],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001597796,"about_ca_system_score_gemma":0.00008235835,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002985647,"about_ca_topic_score_gemma":0.0005179432,"domain_scores_codex":[0.999622,0.00008001574,0.00004077881,0.0001158828,0.00009740391,0.00004394514],"domain_scores_gemma":[0.9994687,0.0002476069,0.0001172473,0.0000735012,0.00005528345,0.00003769249],"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":[0.0002900077,0.00003534052,0.02758032,0.00004345557,0.0000635452,0.0004050168,0.00004981825,0.0004275053,0.9681821,0.0001946307,0.0001204312,0.00260765],"study_design_scores_gemma":[0.00006645617,0.0006827246,0.4881434,0.00001674986,0.0001883864,0.003331098,0.0001275908,0.006320473,0.4966741,0.0009646644,0.00345641,0.0000279607],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941376,0.0002270611,0.003867238,0.00003842366,0.00001635654,0.00001167069,0.001137834,0.00005255069,0.000511252],"genre_scores_gemma":[0.997669,0.00003804599,0.001352624,0.00004165658,0.000006138888,0.00001258013,0.0006470131,0.00001686714,0.0002159734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001305329,"threshold_uncertainty_score":0.004366815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01874067591748976,"score_gpt":0.2467953959217848,"score_spread":0.228054720004295,"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."}}