{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000184896,0.0002375397,0.000414139,0.0008706528,0.0002833167,0.0002671006,0.0001426418,0.0003594903,0.001252682],"category_scores_gemma":[0.0007890877,0.0001235003,0.0001826132,0.0005525666,0.00017193,0.0001071291,0.0001604691,0.0001940125,0.0002030193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002370196,"about_ca_system_score_gemma":0.000108379,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004683018,"about_ca_topic_score_gemma":0.004510595,"domain_scores_codex":[0.9998234,0.0000239735,0.00002315921,0.0000750473,0.00003367336,0.0000207064],"domain_scores_gemma":[0.9997995,0.00004635632,0.00006771636,0.00001643586,0.00003558417,0.00003438902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00200433,0.00005900909,0.9111086,0.00008037069,0.0002125591,0.001621522,0.0006241337,0.0002129637,0.06829841,0.00003174352,0.0004708053,0.01527558],"study_design_scores_gemma":[0.00001648123,0.0001001924,0.9953914,0.000006230089,0.00007213984,0.001572879,0.0000856949,0.000241799,0.002162535,0.00003485232,0.0003098566,0.000005945926],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992988,0.000195131,0.00008867947,0.00001642093,0.000001650238,0.000003606538,0.0002526908,0.000007121082,0.0001357936],"genre_scores_gemma":[0.9993851,0.00005756037,0.00006860358,0.00001176975,0.000003174767,0.00000409068,0.0003304145,0.000002066386,0.0001370929],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004683018,"threshold_uncertainty_score":0.009311497,"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."}}