{"id":"W4386944270","doi":"10.1038/s41431-023-01459-w","title":"Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre","funders":"","keywords":"Genetics; Methylation; DNA methylation; Biology; Medicine; Bioinformatics; Gene; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002102899,0.0002370317,0.0003220278,0.0003546911,0.00007069723,0.00005059665,0.0003884768,0.00008289754,0.00002101125],"category_scores_gemma":[0.0001457635,0.0002145699,0.000100595,0.0004114292,0.00008412937,0.00001205715,0.0001234872,0.0003866306,0.00001089282],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003663892,"about_ca_system_score_gemma":0.0001353417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002161387,"about_ca_topic_score_gemma":0.0002249987,"domain_scores_codex":[0.9972532,0.0006959844,0.001020621,0.0003682174,0.0003114158,0.0003505334],"domain_scores_gemma":[0.9988813,0.00006101772,0.0004701274,0.0003300933,0.0001359707,0.0001214633],"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":[0.001455988,0.0006473897,0.05580537,0.0001560405,0.0002638121,0.00279689,0.002008478,0.3067042,0.6185054,0.0001735342,0.0004307845,0.01105215],"study_design_scores_gemma":[0.02376344,0.01999069,0.9116312,0.001394879,0.0002273631,0.0003420505,0.00124845,0.01067817,0.01969138,0.003549292,0.005441269,0.00204179],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947541,0.001088697,0.002624168,0.00004510869,0.0002069546,0.0002236402,0.000007494602,0.00001046882,0.001039339],"genre_scores_gemma":[0.9958886,0.000944309,0.002651832,0.000046446,0.0002080797,0.000002981051,0.00005465794,0.00007022217,0.0001328579],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8558258,"threshold_uncertainty_score":0.8749905,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01251998677159752,"score_gpt":0.2785343376448049,"score_spread":0.2660143508732074,"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."}}