{"id":"W4224248052","doi":"10.1186/s13148-022-01271-1","title":"Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12","year":2022,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"European Regional Development Fund; Canadian Institutes of Health Research; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Centre National de la Recherche Scientifique; Université de Lorraine; McGill University","keywords":"Biology; Genetics; Epigenetics; DNA methylation; Promoter; Gene; 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":[0.00009969056,0.0002533293,0.0001656169,0.0006684621,0.0002040743,0.0001619726,0.0001480165,0.0002876458,0.001730005],"category_scores_gemma":[0.0002671744,0.0001162262,0.0001889125,0.0003449767,0.0002790954,0.00008942017,0.0002459096,0.000203874,0.000130473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002316378,"about_ca_system_score_gemma":0.000144749,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0012217,"about_ca_topic_score_gemma":0.001895652,"domain_scores_codex":[0.9998851,0.000009757947,0.00001062705,0.0000451754,0.00003039106,0.00001895264],"domain_scores_gemma":[0.9998602,0.00002671948,0.00005115042,0.00001325875,0.00001559571,0.00003312041],"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":[0.001072498,0.00006209236,0.278951,0.0001062016,0.00009377339,0.02486968,0.0005141156,0.0005475659,0.6816639,0.0002719479,0.0001426988,0.01170463],"study_design_scores_gemma":[0.00004516581,0.0002665562,0.6667168,0.00003289802,0.0002181411,0.1083414,0.0003390617,0.001810048,0.2191621,0.0002831292,0.002761863,0.00002287258],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987979,0.0001242435,0.0006225883,0.00001155733,0.000001387872,0.000006850069,0.0001470239,0.00001187326,0.000276441],"genre_scores_gemma":[0.9990867,0.00005062289,0.0005150821,0.000008842468,0.000002034334,0.000005427799,0.0001193945,0.000005578848,0.0002062584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001730005,"threshold_uncertainty_score":0.005787432,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04699089608055756,"score_gpt":0.3730046741331919,"score_spread":0.3260137780526343,"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."}}