{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006236844,0.00005363652,0.00006511722,0.00002604487,0.00001827064,0.000004787451,0.00003129998,0.0000405447,0.00001003633],"category_scores_gemma":[0.00001308385,0.00005561226,0.00001512527,0.000014977,0.00001458851,0.000002616826,0.00002633526,0.00001731102,0.000002508425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005051729,"about_ca_system_score_gemma":0.0000230725,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008317269,"about_ca_topic_score_gemma":0.0000564985,"domain_scores_codex":[0.9996307,0.00001909148,0.000107764,0.0001393338,0.00003639233,0.00006674605],"domain_scores_gemma":[0.9998563,0.000005384007,0.00004306369,0.00005882767,0.00001920571,0.00001721642],"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":[0.00003007222,0.00004345544,0.006601037,0.00005232081,0.00001238554,0.00001204537,0.0007466078,0.00002347775,0.987231,0.0001837473,0.000007969752,0.005055945],"study_design_scores_gemma":[0.001917128,0.0003565986,0.8714411,0.00007514087,0.00002006102,0.00009317111,0.003025054,0.0001836213,0.1214773,0.0007012943,0.0003726486,0.0003368904],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985,0.0005856762,0.00001775715,0.000007390744,0.00002235269,0.0000817847,0.000006436865,0.000001937811,0.0007766855],"genre_scores_gemma":[0.9994443,0.00007860632,0.0003472226,0.00003298475,0.00001471558,0.000002882649,0.00004454944,0.000006512657,0.00002819556],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8657536,"threshold_uncertainty_score":0.2267802,"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."}}