{"id":"W2918517022","doi":"10.1016/j.ajhg.2019.01.010","title":"Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":false,"ca_institutions":"Women and Children’s Health Research Institute; McGill University; University of British Columbia; McGill University Health Centre; University of Alberta; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; Center for Individualized Medicine, Mayo Clinic; National Institutes of Health; Génome Québec; Genome British Columbia; Children's Hospital Foundation; Baylor-Hopkins Center for Mendelian Genomics; Kids Brain Health Network; Fonds de Recherche du Québec - Santé; BC Children's Hospital; BC Children’s Hospital Foundation; McGill University; Ministère des Affaires Sociales et de la Santé; Johns Hopkins University; Medical Research Council; Mayo Clinic","keywords":"Genetics; Biology; Missense mutation; Intellectual disability; Phenotype; Gene","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":[0.0004165703,0.000188259,0.000286561,0.00004098806,0.000109941,0.00003112842,0.0004526624,0.00003317708,0.00002950939],"category_scores_gemma":[0.00001995539,0.0001254229,0.00009079125,0.0001150952,0.0006481899,0.000002660033,0.0000938828,0.0002136035,0.000003947877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002542157,"about_ca_system_score_gemma":0.00005177151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003215342,"about_ca_topic_score_gemma":0.0000468265,"domain_scores_codex":[0.9985824,0.0003195542,0.0004231156,0.0002203526,0.0002149912,0.0002395779],"domain_scores_gemma":[0.9992245,0.0000673611,0.0002027247,0.0003920516,0.00003631233,0.00007707988],"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":[0.0002079259,0.0002003008,0.004776311,0.000009937688,0.00008193096,0.00001980132,0.001741799,0.0002409402,0.9907531,0.0000140635,0.0002976466,0.00165623],"study_design_scores_gemma":[0.001579829,0.003172958,0.9714538,0.00002165998,0.00008588062,0.001358568,0.002103578,0.0001668137,0.01827093,0.0001993806,0.001236324,0.0003502212],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980847,0.0007550571,0.00008158637,0.0007174506,0.00007871397,0.0002298804,0.00001003257,0.000001888849,0.00004073832],"genre_scores_gemma":[0.9978668,0.001098293,0.0003112163,0.0006400477,0.00002267497,0.000002341611,0.00001140866,0.00002187281,0.00002532744],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9724822,"threshold_uncertainty_score":0.5114596,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01976908732300906,"score_gpt":0.2740693923877692,"score_spread":0.2543003050647601,"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."}}