{"id":"W2204287207","doi":"10.1083/jcb.201510032","title":"Defective control of pre–messenger RNA splicing in human disease","year":2016,"lang":"en","type":"review","venue":"The Journal of Cell Biology","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":215,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke","funders":"Canadian Institutes of Health Research","keywords":"RNA splicing; Biology; Spliceosome; Alternative splicing; Prp24; RNA-binding protein; Exonic splicing enhancer; SR protein; Messenger RNA; Splicing factor; Genetics; Polypyrimidine tract; Intron; RNA; Computational biology; Cell biology; Gene","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":[0.001154684,0.000227278,0.0009506805,0.0001659967,0.00004361232,0.000004985028,0.0005580638,0.0002428192,0.00002905608],"category_scores_gemma":[0.0002095575,0.0001138744,0.0004318969,0.00008338405,0.0001909391,0.000003068859,0.0001132956,0.0003804682,0.000003667576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004174019,"about_ca_system_score_gemma":0.0003517875,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000183567,"about_ca_topic_score_gemma":0.000009883951,"domain_scores_codex":[0.9977514,0.0009457951,0.0007197206,0.0001670141,0.0001079987,0.0003080751],"domain_scores_gemma":[0.9982552,0.0002453103,0.0008778791,0.0003399272,0.0001576984,0.0001239747],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004233597,0.00008371271,0.00006149105,0.001293579,0.0002682476,0.00001693956,0.00002000128,0.000007862613,0.9127306,0.00003954205,0.00008931079,0.08496536],"study_design_scores_gemma":[0.004814327,0.003823161,0.0003641302,0.0119709,0.001395926,0.0001730949,0.00005724002,0.00001059596,0.07350988,0.0006408143,0.902341,0.0008989454],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.07498711,0.923925,0.0003877752,0.00002157224,0.00008197949,0.0003176695,0.00003753501,9.68426e-7,0.0002403605],"genre_scores_gemma":[0.189431,0.8099312,0.000008643599,0.00002097139,0.0002725096,0.000006278351,0.00001063399,0.0000210754,0.0002977384],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9022517,"threshold_uncertainty_score":0.4643665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01632374347360401,"score_gpt":0.331282957808996,"score_spread":0.314959214335392,"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."}}