{"id":"W3026773431","doi":"10.1016/j.tig.2020.04.006","title":"Deregulated Regulators: Disease-Causing cis Variants in Transcription Factor Genes","year":2020,"lang":"en","type":"review","venue":"Trends in Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Natural Sciences and Engineering Research Council of Canada; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; ZonMw; Michael Smith Health Research BC; BC Children's Hospital; Genome British Columbia; Provincial Health Services Authority; BC Children’s Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Gene; Genetics; Transcription factor; Genome; Computational biology; Regulatory sequence; Disease","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00007120888,0.0005634027,0.0009145439,0.0003712539,0.00004351424,0.00005376832,0.00031817,0.0005051267,0.00006755061],"category_scores_gemma":[0.00002173085,0.00055047,0.0004469467,0.0005454147,0.00006351319,0.000003511971,0.0001277431,0.0002089313,0.000008360925],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000829561,"about_ca_system_score_gemma":0.0003011242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008935228,"about_ca_topic_score_gemma":0.00008462294,"domain_scores_codex":[0.9976047,0.0001844548,0.0007374721,0.0008553811,0.0001803943,0.0004375583],"domain_scores_gemma":[0.9989107,0.0000109657,0.0002038188,0.0005846882,0.00003450256,0.0002553457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005080384,0.000133154,0.0001865812,0.001541791,0.0001252217,0.0001986065,0.00005163021,0.0001397285,0.0008249518,0.00000742149,0.0002047872,0.9965353],"study_design_scores_gemma":[0.0006324174,0.0001134353,0.003811727,0.00166315,0.000429409,0.00003531991,0.00001531573,0.0002212307,0.0001223716,0.00004220845,0.991973,0.0009403434],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.006809218,0.9919123,0.0000684857,0.0000321035,0.0002943512,0.0003088982,0.0004943389,0.00001683424,0.00006345173],"genre_scores_gemma":[0.01995498,0.9771461,0.0002673336,0.00004299208,0.0002722829,0.00004614349,0.001972966,0.0001182032,0.0001789933],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.995595,"threshold_uncertainty_score":0.9996947,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04760448270480083,"score_gpt":0.3148074761555563,"score_spread":0.2672029934507554,"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."}}