{"id":"W2924783892","doi":"10.1016/j.ajhg.2019.02.006","title":"De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIHR Oxford Biomedical Research Centre; Servier; Department of Health, Northern Ireland; National Institute for Health and Care Research; Institute of Cancer Research; Cancer Research UK; Wellcome Trust; Medical Research Council; Merck","keywords":"Missense mutation; Regulator; Genetics; Gene; Mediator; Biology; Mutation; Cell biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004000658,0.0001582477,0.000219682,0.00005744361,0.0001446411,0.00002325458,0.0007580971,0.00003408296,0.00001771365],"category_scores_gemma":[0.00003737803,0.00009249673,0.0001301081,0.0002225364,0.000439438,0.000002851692,0.0001484041,0.0001766714,0.000002543558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003480768,"about_ca_system_score_gemma":0.0002666457,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001462875,"about_ca_topic_score_gemma":0.0001032642,"domain_scores_codex":[0.9986828,0.0002046394,0.000468626,0.000148378,0.0002463072,0.0002492488],"domain_scores_gemma":[0.9990462,0.0000352204,0.0004499991,0.000342517,0.00007258906,0.000053482],"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":[0.00004922287,0.00008813629,0.04281055,0.000007391822,0.00007512938,0.000008288115,0.001006034,0.0006169851,0.9548364,0.00004818071,0.0001592185,0.0002944142],"study_design_scores_gemma":[0.001303754,0.0008535268,0.8509461,0.00005185777,0.0001006385,0.001705056,0.005278682,0.00006084707,0.1364191,0.0002175844,0.002734017,0.0003288944],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987431,0.0004640796,0.00003756027,0.0003595669,0.00008925304,0.000213104,0.00001026726,0.000001350498,0.00008178839],"genre_scores_gemma":[0.9983282,0.0003114107,0.0007872487,0.0004707675,0.00003136177,0.00000409471,0.000004910975,0.0000200359,0.00004198576],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8184174,"threshold_uncertainty_score":0.3771907,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01510284423772109,"score_gpt":0.2529473366784724,"score_spread":0.2378444924407513,"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."}}