{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002922748,0.0001988757,0.0001930508,0.001201143,0.0001290507,0.0002007753,0.0001393747,0.0002303529,0.001491688],"category_scores_gemma":[0.0008966693,0.00008391197,0.0001505565,0.0004994408,0.0001977881,0.0001091097,0.0004007896,0.0001942924,0.0001126154],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001204903,"about_ca_system_score_gemma":0.0001101045,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008496126,"about_ca_topic_score_gemma":0.001232954,"domain_scores_codex":[0.9997619,0.00005141652,0.00002209099,0.0000848273,0.00004699469,0.00003284343],"domain_scores_gemma":[0.9996344,0.0001334561,0.0001171286,0.00003467245,0.000037203,0.00004309586],"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":[0.0007758173,0.0000411765,0.4571364,0.0001019394,0.000339954,0.0006013724,0.0002674444,0.0006234343,0.5173683,0.0003812568,0.0001028505,0.02226006],"study_design_scores_gemma":[0.000006237512,0.0001087783,0.9656065,0.000005225043,0.00007549913,0.001474028,0.0001034929,0.0008138327,0.03109978,0.0003067336,0.0003937072,0.000006290956],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973477,0.0004107516,0.001325886,0.00001927724,0.000002129607,0.000006324879,0.0004000133,0.00001687091,0.0004710222],"genre_scores_gemma":[0.9990366,0.0001112153,0.0004734284,0.000008494092,0.000001523681,0.000005634339,0.0002319978,0.000003888868,0.0001273584],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001491688,"threshold_uncertainty_score":0.00499022,"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."}}