{"id":"W4387611889","doi":"10.1371/journal.pgen.1010988","title":"CAG repeat expansion in the Huntington’s disease gene shapes linear and circular RNAs biogenesis","year":2023,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; European Commission; Pfizer; National Institute of Neurological Disorders and Stroke; Università degli Studi di Trento; Huntington Society of Canada; H2020 Marie Skłodowska-Curie Actions; Massachusetts General Hospital; Foundation for the National Institutes of Health","keywords":"Biology; RNA splicing; Alternative splicing; Trinucleotide repeat expansion; Circular RNA; Transcriptome; Phenotype; Genetics; Gene isoform; Biogenesis; RNA-binding protein; Gene expression; Gene; RNA; Cell biology; 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":[0.00008067477,0.0001481292,0.0001009623,0.0001170501,0.00008276168,0.0002077636,0.00006512069,0.0001630452,0.0007675363],"category_scores_gemma":[0.0001100566,0.0001034582,0.0001343028,0.00009780163,0.0001806548,0.0001128397,0.0001133368,0.0001821357,0.000269209],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001263909,"about_ca_system_score_gemma":0.0001058797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003929888,"about_ca_topic_score_gemma":0.0009561204,"domain_scores_codex":[0.9999435,0.000008329511,0.000004227923,0.00002094311,0.00001409024,0.000008952579],"domain_scores_gemma":[0.9999074,0.00002168731,0.00003372993,0.00001155913,0.000009720456,0.00001581573],"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":[0.00005536696,0.000004146926,0.0008865458,0.00001069906,0.000002935394,0.00008951345,0.00001265794,0.00005324853,0.9975402,0.0001260634,0.00002291768,0.001195597],"study_design_scores_gemma":[0.00001501155,0.0003499832,0.09651734,0.00001253364,0.000040352,0.001321825,0.0001152645,0.004529363,0.8928424,0.0007099508,0.003531556,0.00001444322],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961488,0.0003937331,0.002543598,0.0000395075,0.000008095129,0.000004546082,0.0001577132,0.00005497647,0.0006489451],"genre_scores_gemma":[0.9969826,0.0001771293,0.001699731,0.00002806904,0.000004226982,0.000004343984,0.0002399276,0.00001883422,0.0008449994],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007675363,"threshold_uncertainty_score":0.002567649,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02449152721854251,"score_gpt":0.2709014679876295,"score_spread":0.246409940769087,"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."}}