{"id":"W4401534044","doi":"10.1093/hmg/ddae119","title":"Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms","year":2024,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada Research Chairs; University of Toronto; Centre for Addiction and Mental Health; University of Alberta; University of Victoria","funders":"National Institute of Mental Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Perelman School of Medicine, University of Pennsylvania; University of Pennsylvania","keywords":"MECP2; Biology; Gene isoform; Rett syndrome; Context (archaeology); Mutant; Genetics; Mutation; Histone; Cell biology; Phenotype; Gene","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":[0.0006185854,0.0005751298,0.0003388416,0.0004391462,0.0002660311,0.0002518366,0.0003223947,0.0007430076,0.001528026],"category_scores_gemma":[0.0007661993,0.0002431955,0.0004367326,0.0003456229,0.0006748529,0.0002731429,0.0003590933,0.0007855409,0.0001958518],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003892571,"about_ca_system_score_gemma":0.0002323215,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001313811,"about_ca_topic_score_gemma":0.001508452,"domain_scores_codex":[0.9993941,0.0001607981,0.00008745729,0.0001672124,0.0001064226,0.00008412691],"domain_scores_gemma":[0.9994599,0.0002390189,0.0001202487,0.0000592123,0.00003505872,0.0000865793],"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":[0.001024166,0.0002136968,0.002391605,0.00003657473,0.00003160619,0.0006660915,0.00005514787,0.0002805891,0.9936687,0.000263008,0.00003046089,0.001338287],"study_design_scores_gemma":[0.0003216659,0.005834616,0.02569347,0.000009351031,0.0001543573,0.005172492,0.0002102294,0.003978145,0.9559928,0.0003784263,0.002228817,0.00002562768],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975809,0.0001908731,0.001276525,0.00005563652,0.00001788833,0.00005813389,0.0002646987,0.000019013,0.0005362924],"genre_scores_gemma":[0.9963043,0.0002229683,0.002159937,0.00009648171,0.00001309651,0.00008098643,0.0003155847,0.0000323642,0.0007743172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001528026,"threshold_uncertainty_score":0.005111754,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03431942677307396,"score_gpt":0.2630631877186652,"score_spread":0.2287437609455913,"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."}}