{"id":"W2148853260","doi":"10.1016/j.tig.2014.12.003","title":"Identification of altered cis-regulatory elements in human disease","year":2015,"lang":"en","type":"review","venue":"Trends in Genetics","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia; BC Centre for Disease Control","funders":"","keywords":"Biology; Regulatory sequence; Computational biology; Identification (biology); Gene; Genetics; DNA binding site; Transcription factor; Regulation of gene expression; Genome; Transcriptional regulation; Disease; Gene expression; Promoter","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":[0.000737657,0.0007596681,0.001233148,0.001049437,0.0001584615,0.0008785203,0.0009528052,0.001290727,0.002414064],"category_scores_gemma":[0.0007696915,0.0002632634,0.0003386569,0.001193889,0.000698684,0.0007952781,0.0008548929,0.001680441,0.001345984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005476238,"about_ca_system_score_gemma":0.0008602787,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008087835,"about_ca_topic_score_gemma":0.00148983,"domain_scores_codex":[0.9998195,0.00002313603,0.00002342608,0.00005021436,0.00006230456,0.00002139688],"domain_scores_gemma":[0.999699,0.0001355894,0.00005373974,0.00001144397,0.00007189184,0.00002837411],"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":[0.0001045495,0.00003504203,0.0006655015,0.00775999,0.0001031221,0.0004034768,0.00005250974,0.0004299264,0.005333419,0.005039863,0.02084463,0.959228],"study_design_scores_gemma":[0.00003269393,0.00007439683,0.002888452,0.002964131,0.0002795971,0.002534692,0.0001108575,0.0001754266,0.00273618,0.005322883,0.9828478,0.00003291235],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000204784,0.9980813,0.0004121093,0.0004560356,0.0002492833,0.00000295286,0.00002802354,0.00001020622,0.0005552224],"genre_scores_gemma":[0.001552273,0.9966072,0.0004240998,0.0004463465,0.0003022127,0.00000561932,0.00004868093,0.000001935857,0.0006117771],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002414064,"threshold_uncertainty_score":0.008075893,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0361158629306847,"score_gpt":0.351469038339607,"score_spread":0.3153531754089223,"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."}}