{"id":"W2108516632","doi":"10.1093/hmg/ddu115","title":"Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Queen's University; Centre for Addiction and Mental Health","funders":"Karl-Franzens-Universität Graz; Canadian Institutes of Health Research; Medizinische Universität Graz; Austrian Science Fund","keywords":"Biology; Genetics; Disease gene identification; Exome sequencing; Gene; Sanger sequencing; Methylation; Methyltransferase; Nonsense-mediated decay; Nonsense; Mutation; RNA splicing; RNA","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":[],"consensus_categories":[],"category_scores_codex":[0.0003870449,0.0002886927,0.0002678894,0.00004055278,0.0001935636,0.00003243996,0.0004498746,0.000252348,0.00003649893],"category_scores_gemma":[0.0002559666,0.0002427559,0.0002813794,0.0001928558,0.0004256783,0.000003667102,0.0002008079,0.0001645008,0.000005219919],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002621459,"about_ca_system_score_gemma":0.00005371539,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003573734,"about_ca_topic_score_gemma":0.0001425281,"domain_scores_codex":[0.9977871,0.0004989881,0.0004958608,0.0005406144,0.0003595228,0.0003179209],"domain_scores_gemma":[0.9984697,0.00005599488,0.0001746677,0.001004246,0.0001869927,0.0001084128],"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":[0.00002662668,0.0001114234,0.007931805,0.00002994931,0.00007518917,4.981214e-7,0.0001713613,0.001105616,0.9883264,0.0001777906,0.00004165067,0.002001724],"study_design_scores_gemma":[0.000434403,0.0003717317,0.04510581,0.00001511276,0.000106734,0.000002043283,0.00002280736,0.0003562868,0.9491539,0.0008542438,0.003295307,0.0002815906],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9689984,0.002047907,0.02791428,0.00007825749,0.0002518652,0.0003549814,0.00003344294,0.00001561349,0.0003051992],"genre_scores_gemma":[0.9974479,0.0002697943,0.001601076,0.0001571954,0.0001709837,0.00002602032,0.0001755273,0.00005455501,0.00009695188],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03917244,"threshold_uncertainty_score":0.9899297,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01849072297468095,"score_gpt":0.2808238100480573,"score_spread":0.2623330870733764,"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."}}