{"id":"W4307972041","doi":"10.1016/j.gim.2022.09.006","title":"Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; BC Children's Hospital; University of British Columbia; Western University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Universitair Medisch Centrum Utrecht; Ministero della Salute; Berlin Institute of Health; Institut National de la Santé et de la Recherche Médicale; Deutsche Forschungsgemeinschaft; Government of Canada; Radboud Universitair Medisch Centrum; Università degli Studi di Padova; Genome Canada; Ontario Genomics; Japan Agency for Medical Research and Development; Radboud Universiteit; Ontario Genomics Institute; Ospedale Pediatrico Bambino Gesù; Howard Hughes Medical Institute","keywords":"Epigenetics; Genetics; Autism; Biology; DNA methylation; Missense mutation; Phenotype; Psychiatry; Medicine; Gene","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":[0.0002000802,0.0002742896,0.0002343091,0.001023374,0.0002542834,0.0002068222,0.0002153858,0.0003683557,0.001750665],"category_scores_gemma":[0.0006430424,0.00009599607,0.0001399725,0.0004692388,0.0002508395,0.0001083933,0.0003548135,0.0002253527,0.0001882745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002346646,"about_ca_system_score_gemma":0.0001916609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00160516,"about_ca_topic_score_gemma":0.001838495,"domain_scores_codex":[0.9998327,0.00001661031,0.00002099532,0.00007282912,0.0000376881,0.00001916517],"domain_scores_gemma":[0.9998198,0.00003687062,0.0000662438,0.00001279588,0.00002774591,0.00003651565],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004861719,0.00007488545,0.7092421,0.0001400705,0.00009703271,0.004498864,0.000392498,0.0002154007,0.2668604,0.0002733041,0.0003553143,0.01736391],"study_design_scores_gemma":[0.00002263658,0.0002329413,0.9450844,0.00003211669,0.00006266077,0.02143683,0.0002008532,0.0008593661,0.03016823,0.0002075998,0.001683514,0.000008757458],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976963,0.0003447214,0.0009018055,0.00004427588,0.000002948063,0.00001787393,0.0004981233,0.00001383091,0.0004800016],"genre_scores_gemma":[0.9978741,0.0001065258,0.001308096,0.00003466144,0.000004243195,0.00001354427,0.0003997305,0.000005707757,0.0002532283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001750665,"threshold_uncertainty_score":0.005856574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01128620607810513,"score_gpt":0.2677292061166736,"score_spread":0.2564430000385685,"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."}}