{"id":"W4226296293","doi":"10.1093/hmg/ddac098","title":"Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency","year":2022,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"National Eye Institute; National Institutes of Health; Agence Nationale de la Recherche","keywords":"Kabuki syndrome; Biology; Exome sequencing; Genetics; Hox gene; Zebrafish; Histone methyltransferase; Histone; Epigenomics; Phenotype; Gene; DNA methylation; Transcription factor; Gene expression","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":[0.00007792861,0.0008556857,0.0002120782,0.0005893933,0.0002392681,0.0001519649,0.0002356776,0.0003567856,0.002648154],"category_scores_gemma":[0.0001854489,0.0001473601,0.0002495364,0.000398055,0.0003852474,0.0001536856,0.00036691,0.0002873895,0.0003257261],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002318457,"about_ca_system_score_gemma":0.0002956263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001111345,"about_ca_topic_score_gemma":0.002656804,"domain_scores_codex":[0.999921,0.000005368787,0.000009273786,0.0000290354,0.00002262792,0.00001267753],"domain_scores_gemma":[0.9998912,0.00002014417,0.00004414493,0.000007922573,0.000009057289,0.00002754348],"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":[0.000398997,0.00004710862,0.03563298,0.000242323,0.0001618131,0.06381454,0.0003438457,0.0005080919,0.8731087,0.0007953254,0.0009066678,0.02403975],"study_design_scores_gemma":[0.0001028331,0.0004884729,0.2678572,0.00007377124,0.0004016747,0.308118,0.0002716664,0.003236134,0.4100299,0.0009160492,0.008442734,0.00006140713],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924434,0.0005426331,0.004647504,0.0000993897,0.00001816171,0.00002782435,0.0008090269,0.0001651674,0.00124686],"genre_scores_gemma":[0.9937365,0.0003976253,0.003809221,0.00005633065,0.000009320357,0.00002228077,0.0005926996,0.00003917682,0.001336695],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002648154,"threshold_uncertainty_score":0.008858919,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009403995915386138,"score_gpt":0.2680325594690109,"score_spread":0.2586285635536248,"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."}}