{"id":"W2981347686","doi":"10.1002/humu.23936","title":"Missense variants in <i>TAF1</i> and developmental phenotypes: Challenges of determining pathogenicity","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; University Health Network","funders":"U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; Wellcome Trust; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Medical Research Council; McCusker Charitable Foundation; National Institutes of Health; Angela Wright Bennett Foundation; Deutsche Forschungsgemeinschaft; Office for People With Developmental Disabilities; National Health and Medical Research Council; Johns Hopkins University","keywords":"Biology; Genetics; Missense mutation; Phenotype; TAF1; Gene; 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":[0.00196782,0.0006452232,0.0009534123,0.001402536,0.000432802,0.001118717,0.000691384,0.0005875601,0.0008388099],"category_scores_gemma":[0.004111819,0.0001788248,0.0003942462,0.000772755,0.0006381554,0.0004944578,0.0007238853,0.001092326,0.0003438013],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005156801,"about_ca_system_score_gemma":0.0005476244,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004917398,"about_ca_topic_score_gemma":0.005467389,"domain_scores_codex":[0.9988607,0.0003517555,0.0001272761,0.0002545067,0.0002917188,0.0001140343],"domain_scores_gemma":[0.9978155,0.001104733,0.0005194294,0.0001983031,0.0001945089,0.0001675314],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007743244,0.0001544652,0.5320266,0.0006557417,0.000517776,0.02233535,0.002020065,0.007275527,0.1678597,0.00702028,0.004772217,0.2545879],"study_design_scores_gemma":[0.00007769567,0.0002660301,0.860633,0.0004373202,0.0003253224,0.04498334,0.002241482,0.02305321,0.02441018,0.01854132,0.02488308,0.0001479698],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9641,0.004925089,0.02440831,0.001456178,0.00006008572,0.00007276838,0.0009130643,0.0004370102,0.003627405],"genre_scores_gemma":[0.9771096,0.001710765,0.01970466,0.0003745834,0.00008110268,0.00003611029,0.0005741909,0.0001104521,0.0002986435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004917398,"threshold_uncertainty_score":0.01040691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01318636133308448,"score_gpt":0.2380493509812584,"score_spread":0.2248629896481739,"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."}}