{"id":"W4383313276","doi":"10.1101/2023.06.29.23292012","title":"A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and <i>in silico</i> methods","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Hospital for Sick Children; University of Toronto; Canada Research Chairs; Sickkids Research Institute; Canadian Institutes of Health Research; Genome Canada","keywords":"Frameshift mutation; In silico; RNA splicing; Intron; Genetics; Biology; Exon; Computational biology; Exon skipping; Indel; splice; Alternative splicing; Gene; RNA; Single-nucleotide polymorphism; Genotype","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":[0.01155473,0.001001885,0.0007928907,0.001845734,0.0006348399,0.00154005,0.001052263,0.0007404361,0.001596437],"category_scores_gemma":[0.01469239,0.0004574674,0.001975882,0.0009764615,0.0006910932,0.0003976194,0.0008109802,0.0005860391,0.0007486531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005371617,"about_ca_system_score_gemma":0.0009699594,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006661618,"about_ca_topic_score_gemma":0.001674397,"domain_scores_codex":[0.9930437,0.002920495,0.0006079214,0.002150618,0.001071186,0.0002061037],"domain_scores_gemma":[0.9814341,0.01195366,0.002934938,0.001802853,0.001509178,0.0003652424],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.002232831,0.0003020505,0.6796103,0.00208597,0.003003826,0.001177258,0.0006843217,0.03211298,0.1811842,0.001714809,0.002875508,0.09301589],"study_design_scores_gemma":[0.0003181333,0.003133194,0.3925992,0.0006897796,0.005464166,0.005714385,0.0005429302,0.3002402,0.2691644,0.00502426,0.01682576,0.0002834538],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8727158,0.002167562,0.1147878,0.0002469411,0.00009896599,0.0003285029,0.005631928,0.001405949,0.002616562],"genre_scores_gemma":[0.9247981,0.0003829374,0.06600677,0.0002665556,0.00003401859,0.0001789329,0.007572903,0.0003929983,0.0003667619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01155473,"threshold_uncertainty_score":0.06110799,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05532205470327585,"score_gpt":0.4053963424293573,"score_spread":0.3500742877260815,"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."}}