{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005620507,0.0001153182,0.0001629658,0.0001211363,0.00007674166,0.000002727883,0.00009672818,0.000106241,0.00005904821],"category_scores_gemma":[0.0002532914,0.0001172966,0.00002182583,0.0002822155,0.0000431387,0.000002115549,0.0001281124,0.0001520104,3.022194e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002389475,"about_ca_system_score_gemma":0.00004309533,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001180702,"about_ca_topic_score_gemma":0.00003256557,"domain_scores_codex":[0.998803,0.0001689124,0.0003787044,0.0002587424,0.0002540298,0.0001366512],"domain_scores_gemma":[0.9995471,0.00002794006,0.000166315,0.0001261414,0.00009374024,0.00003872214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003978335,0.00008450143,0.01958014,0.00001409402,0.00002938347,0.000001533498,0.0003798062,0.00681015,0.9633624,0.00004897088,0.00005599341,0.009593232],"study_design_scores_gemma":[0.007962078,0.003430443,0.4523723,0.00007476386,0.00014305,0.00001120759,0.001186015,0.03635225,0.4802203,0.00191725,0.01555142,0.0007789651],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856932,0.01268418,0.000756999,0.0002439071,0.0001904023,0.0002306426,0.00001637207,0.000005483723,0.0001788307],"genre_scores_gemma":[0.9973896,0.001429242,0.0002830168,0.00006975663,0.00003823805,0.00002017308,0.0005435864,0.0000182084,0.0002081858],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4831421,"threshold_uncertainty_score":0.4783218,"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."}}