{"id":"W2947363345","doi":"10.1186/s13148-019-0658-5","title":"Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome","year":2019,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"Victoria Hospital; London Health Sciences Centre; Western University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Children's Health Foundation; McMaster University; Children's Health Research Institute","keywords":"Genetics; Biology; DNA methylation; Gene; Human genetics; OMIM : Online Mendelian Inheritance in Man; Chromatin; Methylation; Bioinformatics; Gene expression; Phenotype","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":[0.0003214022,0.0003824574,0.0002089072,0.000805114,0.0001403887,0.0003683516,0.0001980675,0.0002995341,0.0008802287],"category_scores_gemma":[0.001375261,0.0000974752,0.0002605039,0.000306586,0.0002728649,0.0001456295,0.0004451232,0.000289623,0.0001048854],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002533027,"about_ca_system_score_gemma":0.0001619911,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001059726,"about_ca_topic_score_gemma":0.001233832,"domain_scores_codex":[0.999846,0.00002345183,0.00001271309,0.00006724956,0.00002752002,0.00002299323],"domain_scores_gemma":[0.9995179,0.0002540756,0.0001034982,0.00002769178,0.00004043542,0.00005641004],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001107861,0.0000631303,0.896604,0.0000603226,0.0001366566,0.001354862,0.0001806542,0.009820946,0.06319694,0.0006096132,0.0002089228,0.02665607],"study_design_scores_gemma":[0.00009967517,0.0004248703,0.7327137,0.00003458553,0.0002640925,0.006178713,0.0002789305,0.2241657,0.02966793,0.004734051,0.00139672,0.00004105579],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954249,0.0001616372,0.003835008,0.00003216025,0.000002275043,0.00001399946,0.0001406745,0.0000458695,0.0003434426],"genre_scores_gemma":[0.9983966,0.00002777231,0.001332192,0.000008477349,0.000002490376,0.000006977881,0.0001723326,0.000003520832,0.00004964818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001059726,"threshold_uncertainty_score":0.002944708,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02269880302682404,"score_gpt":0.3296962994632304,"score_spread":0.3069974964364064,"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."}}