{"id":"W4362657804","doi":"10.1007/s00439-023-02544-2","title":"DNA methylation signatures for chromatinopathies: current challenges and future applications","year":2023,"lang":"en","type":"article","venue":"Human Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Simons Foundation Autism Research Initiative","keywords":"Biology; DNA methylation; Epigenetics; Genetics; Human genetics; Methylation; RNA-Directed DNA Methylation; DNA; Computational biology; Phenotype; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02056801,0.001129174,0.003143601,0.003011739,0.0008806008,0.003780711,0.003142267,0.005291577,0.005470683],"category_scores_gemma":[0.01616724,0.0008712751,0.0009672891,0.002072886,0.005480478,0.008585968,0.003436889,0.006409518,0.001903228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002135056,"about_ca_system_score_gemma":0.003498151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001976979,"about_ca_topic_score_gemma":0.003306444,"domain_scores_codex":[0.9969939,0.001230173,0.0003039965,0.0006320881,0.0006460467,0.000193685],"domain_scores_gemma":[0.9745011,0.01763732,0.00108561,0.001193836,0.004236728,0.001345455],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0006117714,0.000126949,0.009778974,0.004314612,0.0002154448,0.000441934,0.0007693354,0.002070246,0.00756672,0.0459641,0.04238038,0.8857595],"study_design_scores_gemma":[0.0001415819,0.000693318,0.01320132,0.00618936,0.0004256135,0.004123337,0.002949709,0.007710516,0.004733136,0.299266,0.6602127,0.0003532531],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002477056,0.9186554,0.01104382,0.06429166,0.000918399,0.00002599688,0.0002379073,0.0002384315,0.00211135],"genre_scores_gemma":[0.05829215,0.8762835,0.0324472,0.01857836,0.01085184,0.0002122914,0.0005988881,0.0001283757,0.002607374],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.02056801,"threshold_uncertainty_score":0.1087754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0359540486198905,"score_gpt":0.3181388637158232,"score_spread":0.2821848150959327,"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."}}