{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002832426,0.0001394967,0.0001127993,0.00008736795,0.0001261418,0.00004279846,0.0002446427,0.00008614036,0.000005604276],"category_scores_gemma":[0.0001744893,0.0001098432,0.00005961291,0.0002435002,0.00006865339,0.000002680228,0.000194572,0.00008484367,0.00001926822],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008180894,"about_ca_system_score_gemma":0.000060166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002155628,"about_ca_topic_score_gemma":0.00003516537,"domain_scores_codex":[0.9987273,0.0001057693,0.0001791111,0.0003679315,0.0002655671,0.0003543205],"domain_scores_gemma":[0.9993694,0.00002712246,0.00003422625,0.0003801797,0.00005405949,0.0001350123],"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":[0.00002989778,0.0000426993,0.02167433,0.0000420682,0.00002290064,0.00004204203,0.00009073105,0.0002912682,0.9760516,0.000002794352,0.0002604209,0.001449263],"study_design_scores_gemma":[0.0004732913,0.0001445537,0.05654515,0.00003144394,0.00003773507,0.00000643466,0.0002720121,0.01694179,0.9217206,0.00006274907,0.003495604,0.0002686068],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966409,0.002538153,0.00003733448,0.0004274623,0.00002648307,0.0002449811,0.00002490855,0.00001840713,0.00004140474],"genre_scores_gemma":[0.9953887,0.003489002,0.0001831369,0.000287912,0.0002188442,0.00004219746,0.0001159393,0.00002916318,0.0002450609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05433095,"threshold_uncertainty_score":0.4479274,"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."}}