{"id":"W4200497016","doi":"10.1101/2021.12.27.474266","title":"Defective linear and circular RNAs biogenesis in Huntington’s disease: CAG repeat expansion hijacks neuronal splicing","year":2021,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; European Commission; Università degli Studi di Trento; European Huntington's Disease Network; Huntington Society of Canada","keywords":"RNA splicing; Biology; Trinucleotide repeat expansion; Phenotype; Biogenesis; Circular RNA; Alternative splicing; RNA; RNA-binding protein; Neuroscience; Cell biology; Genetics; Messenger RNA; Gene; Allele","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":[0.0001331665,0.0001744264,0.0001296498,0.0002103555,0.00008992871,0.0002063715,0.00007423513,0.0002039095,0.001732103],"category_scores_gemma":[0.00008849208,0.00007957961,0.00009665144,0.0001346954,0.000214201,0.0001002506,0.0001275999,0.0002123728,0.0004744679],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000115234,"about_ca_system_score_gemma":0.00008990616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003510455,"about_ca_topic_score_gemma":0.000415087,"domain_scores_codex":[0.9999453,0.000008966472,0.00000464296,0.00001689054,0.00001479071,0.000009422258],"domain_scores_gemma":[0.9999373,0.00001405186,0.00001989404,0.000009157689,0.000006757887,0.00001277729],"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":[0.0001113718,0.00001124342,0.001794363,0.00003020626,0.000007210971,0.000349613,0.00002006043,0.00009789714,0.9953036,0.000330938,0.0001250729,0.001818372],"study_design_scores_gemma":[0.0000147729,0.0001290242,0.0383914,0.000008680384,0.00002846031,0.002600394,0.00007147924,0.00352419,0.9505165,0.001089747,0.003617757,0.000007667567],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9890058,0.001194883,0.00721015,0.0001377999,0.00003578458,0.000006597204,0.0004941949,0.0001745092,0.001740199],"genre_scores_gemma":[0.9930668,0.0003887728,0.002358905,0.00002796994,0.00001529814,0.000004815426,0.0005793686,0.00003097508,0.003527141],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001732103,"threshold_uncertainty_score":0.005794466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01016980524365026,"score_gpt":0.232647948878526,"score_spread":0.2224781436348758,"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."}}