{"id":"W2980454433","doi":"10.1002/ajmg.c.31745","title":"Epigenetic signatures in overgrowth syndromes: Translational opportunities","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Amgen (Canada); Hospital for Sick Children; Toronto Rehabilitation Institute; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Epigenetics; dNaM; Biology; Epigenomics; DNA methylation; Chromatin; Histone; Epigenesis; Computational biology; Genetics; Genome; 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":[0.004450779,0.0005928583,0.001160969,0.001737697,0.0003999368,0.002058791,0.0007944937,0.002268642,0.003797912],"category_scores_gemma":[0.003432444,0.0002849374,0.0004749729,0.001381773,0.002537047,0.003157641,0.002106265,0.003897077,0.0005753499],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001198913,"about_ca_system_score_gemma":0.002070873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007340396,"about_ca_topic_score_gemma":0.001086448,"domain_scores_codex":[0.9996009,0.0001548857,0.00004241563,0.00007268832,0.00006901972,0.00006003232],"domain_scores_gemma":[0.9954841,0.00283236,0.0002813618,0.0002786485,0.0005693545,0.0005541093],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009681289,0.0002772057,0.008543777,0.00439658,0.0002640971,0.002177985,0.0007941439,0.001131846,0.01061257,0.09146962,0.03935594,0.8400081],"study_design_scores_gemma":[0.0002952792,0.00100814,0.0234305,0.004893795,0.0004449055,0.004988159,0.00159008,0.002127841,0.005238323,0.1959278,0.759897,0.000158153],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.005960101,0.9259387,0.003421735,0.05608333,0.002329682,0.00002886389,0.0002028826,0.00008603396,0.005948763],"genre_scores_gemma":[0.06026427,0.9007359,0.005263245,0.01503124,0.01666747,0.00006064128,0.0003233355,0.00002917141,0.001624836],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004450779,"threshold_uncertainty_score":0.02353829,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01796715436131984,"score_gpt":0.2994033715082275,"score_spread":0.2814362171469077,"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."}}