{"id":"W4392086794","doi":"10.1111/cge.14498","title":"Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global <scp>DNA</scp> methylation profile","year":2024,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Commission; Eesti Teadusagentuur; Government of Canada; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Gene duplication; DNA methylation; Genetics; Locus (genetics); Neurodevelopmental disorder; Gene; Biology; Autism; Autism spectrum disorder; Medicine; Gene expression; Psychiatry","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":[0.0001020963,0.0006985898,0.0002980539,0.0009646165,0.0002593024,0.0002060999,0.0002429348,0.0003507857,0.002128834],"category_scores_gemma":[0.0005379515,0.0001508225,0.0002211436,0.0003605627,0.0003699235,0.0001247982,0.0003207221,0.0003018781,0.0003530742],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002075858,"about_ca_system_score_gemma":0.0001815482,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002229468,"about_ca_topic_score_gemma":0.00340488,"domain_scores_codex":[0.9998035,0.00002621874,0.00001807974,0.00008305855,0.00004306535,0.0000261717],"domain_scores_gemma":[0.9998839,0.0000353541,0.00003838658,0.00001008239,0.00001108863,0.0000211929],"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":[0.0004596973,0.00006630657,0.1878722,0.0001267445,0.0001174424,0.03334546,0.0005708006,0.0004729178,0.7480503,0.0004022309,0.0003605638,0.02815535],"study_design_scores_gemma":[0.00003977509,0.0003903091,0.7563155,0.0000370727,0.0001440374,0.140126,0.0002534607,0.0007382949,0.09642833,0.0005917974,0.004902366,0.00003299733],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969361,0.0005209747,0.001241941,0.00006816937,0.000007076183,0.00001684402,0.0003459656,0.00004229246,0.0008206592],"genre_scores_gemma":[0.9980445,0.0002175925,0.0009457042,0.00002151574,0.000005547814,0.000006817448,0.000277155,0.00000646831,0.0004747345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002229468,"threshold_uncertainty_score":0.007121682,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0254697802137006,"score_gpt":0.3060903875344019,"score_spread":0.2806206073207013,"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."}}