{"id":"W4288535921","doi":"10.1002/humu.24446","title":"Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders","year":2022,"lang":"en","type":"article","venue":"Human Mutation","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Children's Hospital of Eastern Ontario; University of Ottawa; Children’s Health Research Institute; Université de Montréal; Manitoba Health; BC Children's Hospital; Children's & Women's Health Centre of British Columbia; University of British Columbia; Western University; Newborn Screening Ontario; Centre Hospitalier Universitaire Sainte-Justine; London Health Sciences Centre","funders":"Ministero della Salute; Murdoch Children's Research Institute; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Children’s Hospital of Wisconsin Research Institute; Government of Canada; Royal Children's Hospital Foundation; Children's Hospital Foundation; State Government of Victoria; London Health Sciences Centre","keywords":"Biology; DNA methylation; Genetics; Differentially methylated regions; Genome; Epigenetics; CpG site; Methylation; Gene; Intergenic region; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002455626,0.00009169507,0.00008160337,0.0001497084,0.0001513187,0.000009738807,0.00007174694,0.00004597599,0.0001051863],"category_scores_gemma":[0.00004242015,0.0001136936,0.00004150276,0.0001642531,0.00002925209,0.00000757285,0.00006361106,0.00007579057,0.000002565164],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004795514,"about_ca_system_score_gemma":0.00005332307,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002207285,"about_ca_topic_score_gemma":0.00007546613,"domain_scores_codex":[0.9989671,0.0001424208,0.0003100418,0.0002398564,0.0002312446,0.0001093713],"domain_scores_gemma":[0.999629,0.00001679579,0.0001714643,0.0001129697,0.00004823424,0.00002150003],"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":[0.00005736165,0.0001056833,0.1058443,0.00001594146,0.0000143069,8.525068e-7,0.0003608913,0.1577291,0.7306802,0.0001372135,0.0000374122,0.00501678],"study_design_scores_gemma":[0.0005447914,0.0002277045,0.9607096,0.000002049657,0.000008515995,0.000001279916,0.0001630991,0.001402909,0.03458698,0.001498045,0.0007273625,0.0001276317],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868086,0.0003207395,0.01197596,0.00003589371,0.0001334513,0.0002829252,0.00001159822,0.000007261478,0.0004235804],"genre_scores_gemma":[0.9973409,0.00002542282,0.00059882,0.00002732423,0.0000392466,0.0000812503,0.001698134,0.00001720509,0.0001717519],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8548654,"threshold_uncertainty_score":0.4636289,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01203043591276467,"score_gpt":0.2395081930163782,"score_spread":0.2274777571036136,"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."}}