{"id":"W2955977299","doi":"10.1038/s41436-019-0585-z","title":"CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Vancouver General Hospital","funders":"Wellcome Trust; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Vlaamse regering; Fonds Wetenschappelijk Onderzoek; Deutsche Forschungsgemeinschaft; National Institute of General Medical Sciences; National Institute for Health and Care Research; National Institutes of Health; National Cancer Institute; Eesti Teadusagentuur; National Eye Institute; Wellcome","keywords":"Neurodevelopmental disorder; CTCF; Autism spectrum disorder; Genetics; Medicine; Psychiatry; Biology; Gene; Autism; Transcription factor","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003830785,0.0001162661,0.0001592056,0.00004864251,0.00002982817,0.00001134109,0.0001583761,0.00007802208,0.00007907038],"category_scores_gemma":[0.00006276046,0.00007589076,0.00001401194,0.000117818,0.0001388048,0.000001900149,0.0001159712,0.0001253932,0.00000435413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007517017,"about_ca_system_score_gemma":0.0001313417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004987844,"about_ca_topic_score_gemma":0.0001754084,"domain_scores_codex":[0.9989984,0.0000707653,0.0002768221,0.0003161238,0.0001477502,0.0001901053],"domain_scores_gemma":[0.9996121,0.00004623967,0.00005978002,0.0002053876,0.00001919076,0.00005729602],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006410564,0.00008419697,0.9967253,0.0000118974,0.00003363488,0.00001547308,0.0001495577,0.000287278,0.001395387,0.0001083858,0.0002534452,0.0008713686],"study_design_scores_gemma":[0.002185954,0.0003748959,0.9910842,0.00003311435,0.00001700468,0.00004893886,0.0002735507,0.0003581948,0.00007308928,0.0005188144,0.004910707,0.0001215072],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968671,0.001223037,0.0000957333,0.0006822396,0.0001493216,0.000279303,0.00001306815,0.000002075486,0.0006881279],"genre_scores_gemma":[0.9970524,0.000650176,0.00103604,0.0008132747,0.0001250986,0.00001068795,0.0000918963,0.00001483154,0.0002056449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00564104,"threshold_uncertainty_score":0.3094735,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008351570928077739,"score_gpt":0.2694087162324771,"score_spread":0.2610571453043994,"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."}}