{"id":"W2921632146","doi":"10.1042/etls20180099","title":"Pharmacologic normalization of pathogenic dosage underlying genetic diseases: an overview of the literature and path forward","year":2019,"lang":"en","type":"article","venue":"Emerging Topics in Life Sciences","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"","keywords":"Haploinsufficiency; Normalization (sociology); Messenger RNA; Gene; Disease; Gene product; Computational biology; Biology; Bioinformatics; Gene expression; Medicine; Phenotype; Genetics; Internal medicine","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":[0.0009462594,0.0008249198,0.001234366,0.002138825,0.0003781675,0.001205295,0.0007520879,0.001198811,0.002309029],"category_scores_gemma":[0.000892744,0.0003417165,0.0007356819,0.00114577,0.000836712,0.0015222,0.0006857537,0.002202173,0.001094509],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007720992,"about_ca_system_score_gemma":0.0009416376,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005622001,"about_ca_topic_score_gemma":0.001178876,"domain_scores_codex":[0.9997172,0.00006068073,0.00006183927,0.00005907782,0.00007330139,0.00002789457],"domain_scores_gemma":[0.9995072,0.0003021723,0.00007507152,0.00001684185,0.0000732623,0.00002549113],"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":[0.0002955105,0.000312429,0.001007186,0.02419425,0.0002147952,0.001892077,0.0002028776,0.0007109239,0.01860281,0.01997772,0.02210324,0.9104862],"study_design_scores_gemma":[0.00006370179,0.0007645765,0.001875875,0.00562342,0.0004699933,0.01167879,0.0002398577,0.0004529916,0.01057008,0.009460858,0.958721,0.00007875204],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006745576,0.9944178,0.001557643,0.001137177,0.0002362493,0.0000239903,0.00004334944,0.00003668589,0.001872691],"genre_scores_gemma":[0.002466186,0.9943677,0.001639611,0.0006343395,0.0002789781,0.00003412897,0.00005486508,0.000008211891,0.0005159776],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002309029,"threshold_uncertainty_score":0.007724464,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06427979040716096,"score_gpt":0.38499503650803,"score_spread":0.320715246100869,"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."}}