{"id":"W2097196875","doi":"10.1093/hmg/ddu279","title":"Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":87,"is_retracted":false,"has_abstract":true,"ca_institutions":"Health Sciences Centre; Canada Research Chairs; Sunnybrook Health Science Centre; Occupational Cancer Research Centre; University of Toronto","funders":"Consejo Nacional de Investigaciones Científicas y Técnicas; W. Garfield Weston Foundation; Wellcome Trust","keywords":"Trinucleotide repeat expansion; C9orf72; CpG site; DNA methylation; Biology; Methylation; Bisulfite sequencing; Epigenetics; Haploinsufficiency; Amyotrophic lateral sclerosis; Frontotemporal lobar degeneration; Allele; Genetics; Molecular biology; DNA; Pathology; Gene; Frontotemporal dementia; Disease; Medicine; Dementia; Gene expression","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":[0.000261446,0.0001136535,0.0001674531,0.00004454867,0.0001379127,0.00002689612,0.0002233538,0.0000884337,0.00006595306],"category_scores_gemma":[0.0001274758,0.0000645228,0.00008207175,0.0001942046,0.0002141148,0.00001619475,0.0001574453,0.0002247899,0.00001217043],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004371464,"about_ca_system_score_gemma":0.00004348124,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009256775,"about_ca_topic_score_gemma":0.00006350267,"domain_scores_codex":[0.9984764,0.0002526514,0.0002735615,0.000198755,0.0005802488,0.0002183952],"domain_scores_gemma":[0.9990523,0.00003401487,0.00008128943,0.0006509564,0.000126654,0.00005480707],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00006667314,0.0002424322,0.3758849,0.00006956166,0.00003515682,0.00000493768,0.001052467,0.001429925,0.6112983,0.0003410161,0.0003495125,0.009225143],"study_design_scores_gemma":[0.001126513,0.0002511607,0.979059,0.00007127676,0.00002769471,0.000001300403,0.00001097394,0.002250504,0.01558014,0.0005288118,0.001018432,0.00007414608],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979724,0.0001183816,0.0002721842,0.0003372079,0.00005223506,0.0004902703,0.000002171606,0.000007496421,0.0007476777],"genre_scores_gemma":[0.9992616,0.00002014961,0.000198631,0.0002931056,0.00004290004,0.00001627131,0.00001643267,0.00002528412,0.0001256303],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6031742,"threshold_uncertainty_score":0.2631164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01461419023726812,"score_gpt":0.2701386454309039,"score_spread":0.2555244551936358,"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."}}