{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006597924,0.0005939379,0.0003377087,0.0005581604,0.0002997898,0.0002210338,0.0003104199,0.0005405953,0.001445896],"category_scores_gemma":[0.0003127306,0.0001219097,0.0003543504,0.0002957766,0.0003083492,0.0001167264,0.0005093383,0.0004147743,0.0003402055],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002454816,"about_ca_system_score_gemma":0.0001592458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001063922,"about_ca_topic_score_gemma":0.0014967,"domain_scores_codex":[0.9998916,0.000009442324,0.00001221233,0.0000314652,0.00003403062,0.00002114493],"domain_scores_gemma":[0.9998484,0.00003472038,0.00005507912,0.00001080131,0.000007860012,0.00004312446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006249052,0.0001345571,0.04508074,0.0001397879,0.0001259162,0.1247315,0.0004663077,0.0005353086,0.7975943,0.0005646773,0.0005104726,0.02949158],"study_design_scores_gemma":[0.0001526197,0.001252836,0.2700987,0.00005090849,0.000270819,0.4117533,0.0004257116,0.003089858,0.2960079,0.0009967193,0.01580771,0.000092945],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962264,0.0004408034,0.002270918,0.00008488681,0.0000172722,0.00002003259,0.000294271,0.00007021235,0.0005752627],"genre_scores_gemma":[0.997382,0.0003078008,0.00136533,0.00004272538,0.00001165239,0.00001328561,0.0002530894,0.00001153241,0.0006126146],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001445896,"threshold_uncertainty_score":0.004836977,"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."}}