{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002690051,0.0001077336,0.0004108062,0.0001399974,0.00006758764,0.000007881075,0.0002777837,0.00008543243,0.0000792756],"category_scores_gemma":[0.001183079,0.0000669275,0.00009936661,0.0007798259,0.0005120413,0.00002083654,0.0001849817,0.0007382686,0.000001499666],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001527164,"about_ca_system_score_gemma":0.0001402672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002597219,"about_ca_topic_score_gemma":0.0001744645,"domain_scores_codex":[0.9974158,0.000811028,0.0008905842,0.0002308747,0.0004186178,0.0002330967],"domain_scores_gemma":[0.9979101,0.001384922,0.0001455876,0.0004333754,0.00006652749,0.00005946375],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005792766,0.005696845,0.833235,0.0003169403,0.0002298552,0.000136088,0.01035798,0.00102077,0.01165086,0.0009840438,0.0004660059,0.1353263],"study_design_scores_gemma":[0.002478062,0.0009770643,0.9786067,0.00003563823,0.00009893991,0.0000105286,0.002849927,0.006468708,0.0004069838,0.0007621567,0.0072033,0.0001019937],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924525,0.002529833,0.00009083937,0.003907227,0.00008041606,0.0007636992,0.00002806343,0.000004295922,0.0001431451],"genre_scores_gemma":[0.9978396,0.001180662,0.0003914671,0.0003123546,0.00003402335,0.00005743739,0.00001960965,0.000016403,0.0001484094],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1453717,"threshold_uncertainty_score":0.3207451,"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."}}