{"id":"W2986189881","doi":"10.1186/s13148-019-0749-3","title":"A genome-wide DNA methylation signature for SETD1B-related syndrome","year":2019,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's & Women's Health Centre of British Columbia; University of British Columbia; Western University","funders":"","keywords":"Epigenetics; Genetics; Biology; DNA methylation; Human genetics; Gene; Histone; Histone methyltransferase; Missense mutation; Chromatin; Methyltransferase; Computational biology; Methylation; Gene expression; Mutation","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":[0.0004341181,0.0002297284,0.0002975075,0.000042138,0.00006886809,0.00002505789,0.0002746156,0.0004727253,0.0001157129],"category_scores_gemma":[0.0003257244,0.0002303974,0.0002773259,0.0001191432,0.00009231576,0.000002493668,0.0001514957,0.0001844541,0.0001422784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001067591,"about_ca_system_score_gemma":0.0001177017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":8.807974e-7,"about_ca_topic_score_gemma":0.000007111251,"domain_scores_codex":[0.9980828,0.00009611625,0.000657016,0.0006552507,0.0001569232,0.0003518628],"domain_scores_gemma":[0.9989347,0.0001296265,0.0001761416,0.0004821974,0.000119632,0.0001576553],"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":[0.0003154351,0.0005296841,0.0707581,0.0001350229,0.0004783247,0.000008846625,0.00006385559,0.003992893,0.9079243,0.0001051116,0.002315152,0.01337326],"study_design_scores_gemma":[0.00294199,0.002453872,0.80359,0.00002136538,0.0000893032,0.00001155839,0.00004875401,0.0004254243,0.0406394,0.002045718,0.1469519,0.000780687],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942868,0.001339297,0.00176672,0.0002479477,0.0007457735,0.0007973724,0.00005509102,0.00001863528,0.0007423922],"genre_scores_gemma":[0.9924274,0.0008672256,0.001832307,0.0009230594,0.00003859417,0.00003182359,0.0005582572,0.00006107175,0.003260266],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.867285,"threshold_uncertainty_score":0.9395333,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01778535818405212,"score_gpt":0.2955901367086984,"score_spread":0.2778047785246463,"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."}}