{"id":"W2488766489","doi":"10.1101/067454","title":"Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphism","year":2016,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; Baylor-Hopkins Center for Mendelian Genomics; Deutsche Forschungsgemeinschaft; Johns Hopkins University; Cancer Prevention and Research Institute of Texas; Simons Foundation","keywords":"Transactivation; Intellectual disability; Ataxia; Transcription factor; Biology; Genetics; Gene; Neuroscience","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002211883,0.0003610992,0.0001823442,0.00047141,0.0002889244,0.0002356509,0.0001920806,0.0003117589,0.001847212],"category_scores_gemma":[0.0002694894,0.00008257768,0.000186764,0.0002432243,0.0003476836,0.0001036191,0.0003631744,0.0003144742,0.0003386025],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002039687,"about_ca_system_score_gemma":0.0001643054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001186037,"about_ca_topic_score_gemma":0.00215218,"domain_scores_codex":[0.999863,0.00001485271,0.00001169886,0.00004398987,0.00004289936,0.00002346135],"domain_scores_gemma":[0.9999044,0.00002496904,0.00002484955,0.00001197703,0.000009181488,0.00002473398],"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":[0.0001900071,0.0000575039,0.02731004,0.00003224784,0.00005074276,0.005484181,0.0003729451,0.0007137184,0.9483325,0.0006790014,0.0007058643,0.01607114],"study_design_scores_gemma":[0.00004614764,0.0002037932,0.2616031,0.00003443532,0.0001221682,0.03538994,0.0005321698,0.005845836,0.6796792,0.001287613,0.01522445,0.00003097332],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930438,0.00009853956,0.004491546,0.0001079894,0.000008790863,0.0000144873,0.0008288843,0.00008153105,0.001324274],"genre_scores_gemma":[0.9937121,0.000090225,0.004121868,0.00005600498,0.000006971831,0.00001052118,0.000692143,0.00003959081,0.00127073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001847212,"threshold_uncertainty_score":0.006179512,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01363935651693172,"score_gpt":0.2126798263766047,"score_spread":0.199040469859673,"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."}}