{"id":"W4388406874","doi":"10.1073/pnas.2314225120","title":"Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites","year":2023,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; Center for Innovative Medicine; National Institutes of Health; Honjo International Scholarship Foundation; Necmettin Erbakan Üniversitesi; Hospital for Sick Children; Georgia Clinical and Translational Science Alliance; Howard Hughes Medical Institute; Vetenskapsrådet; National Institute of Allergy and Infectious Diseases; Fisher Center for Alzheimer's Research Foundation; Agence Nationale de la Recherche; King Abdulaziz City for Science and Technology; National Cancer Institute; Knut och Alice Wallenbergs Stiftelse; King Abdullah University of Science and Technology; Technische Universität Dresden; Fondation pour la Recherche Médicale; Cancerfonden; European Commission; Ministère de l'Enseignement supérieur, de la Recherche et de l'Innovation; Cardiff University; Institut des maladies génétiques Imagine; St. Giles Foundation; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft; Fondation du Souffle; Yale University; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Genetics; RNA splicing; Gene; Biology; Exon skipping; Human genome; Exon; Intron; splice; Genome; Exome; Exome sequencing; Mutation; RNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002563765,0.0002030255,0.0003796755,0.0007546404,0.0001722518,0.0003648096,0.0001766806,0.0003801673,0.0007702345],"category_scores_gemma":[0.0006170857,0.0001180198,0.0003296017,0.0008530326,0.00009331609,0.0001067247,0.0002777213,0.0002658217,0.0002035673],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009401438,"about_ca_system_score_gemma":0.0001131301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001070443,"about_ca_topic_score_gemma":0.002511281,"domain_scores_codex":[0.9998035,0.00002577238,0.00002121703,0.0000968867,0.00003360573,0.00001906332],"domain_scores_gemma":[0.9997526,0.000115838,0.00005445262,0.00002155068,0.00002648951,0.00002907459],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002316284,0.0002205049,0.6967452,0.0003633954,0.0009974974,0.002740516,0.0001905712,0.004003528,0.2519144,0.0003037528,0.001957411,0.03824701],"study_design_scores_gemma":[0.00008088472,0.0002797391,0.9565672,0.00002058676,0.0005649771,0.00404382,0.0001394989,0.008486008,0.02587805,0.0002370319,0.003678902,0.00002338528],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952939,0.0002473862,0.0008034344,0.00002673519,0.000003053226,0.000009059534,0.003394843,0.00003585358,0.0001856923],"genre_scores_gemma":[0.9829843,0.0002022253,0.002501695,0.00005579512,0.000005687152,0.00001536141,0.01400396,0.00001374458,0.0002172136],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001070443,"threshold_uncertainty_score":0.002576709,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03563161136839733,"score_gpt":0.3217544316617242,"score_spread":0.2861228202933269,"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."}}