{"id":"W4220797687","doi":"10.1038/s41598-022-09002-5","title":"DNA methylation in Friedreich ataxia silences expression of frataxin isoform E","year":2022,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Institute of Neurological Disorders and Stroke; National Institutes of Health; Muscular Dystrophy Association; National Institute of Environmental Health Sciences; Friedreich's Ataxia Research Alliance","keywords":"Frataxin; Biology; Ataxia; Intron; Epigenetics; DNA methylation; Genetics; Gene silencing; Gene; Gene isoform; Iron-binding proteins; Molecular biology; Gene expression; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001005232,0.0001147704,0.0001386853,0.0001196629,0.00009819533,0.00009912106,0.0001213686,0.0001808138,0.0008287154],"category_scores_gemma":[0.0001319117,0.00007730577,0.0001280337,0.00005544106,0.0001562342,0.00006361476,0.0001508616,0.0002167804,0.0001979882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000180463,"about_ca_system_score_gemma":0.0001311418,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008466294,"about_ca_topic_score_gemma":0.002458491,"domain_scores_codex":[0.9999421,0.00001158475,0.000006719809,0.00001669584,0.00001223496,0.00001069763],"domain_scores_gemma":[0.9999468,0.0000139495,0.00001875734,0.000007325187,0.00000412676,0.00000899426],"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":[0.00003523349,0.00001116597,0.0001751229,0.000008088161,0.000003589983,0.0000584132,0.00001468129,0.00005647811,0.9986143,0.00008732348,0.00001942291,0.0009161329],"study_design_scores_gemma":[0.00002586333,0.0003031614,0.0098268,0.00001163405,0.00002268032,0.0005992412,0.00004034153,0.001254185,0.9850324,0.000132075,0.002745449,0.000006191461],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973965,0.0003691315,0.001198888,0.00004600792,0.0000133845,0.00001101443,0.00008181809,0.00004521338,0.0008381259],"genre_scores_gemma":[0.9984697,0.0001305379,0.0004878454,0.00001966002,0.000001710898,0.000007216002,0.00006390338,0.000006477518,0.0008130744],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008466294,"threshold_uncertainty_score":0.002772331,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03043568054481393,"score_gpt":0.2772963120533157,"score_spread":0.2468606315085018,"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."}}