{"id":"W2184580009","doi":"10.1016/j.ajhg.2015.11.005","title":"TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Human Genome Research Institute; Instituto de Salud Carlos III; National Institutes of Health","keywords":"Genetics; Phenotype; TAF1; Biology; Proband; Gene; Hypotonia; Gene knockdown; Zebrafish; Intellectual disability; Single-nucleotide polymorphism; Mutation; Gene expression; Genotype","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":[0.0002456788,0.0001423177,0.0001847711,0.00002690523,0.0001140954,0.00003710725,0.0002633641,0.00003400661,0.000004840249],"category_scores_gemma":[0.0001804741,0.00009225043,0.0000418798,0.0001134626,0.0007425647,0.000002514391,0.0001261847,0.0001834204,8.880107e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001059162,"about_ca_system_score_gemma":0.00007014631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000045978,"about_ca_topic_score_gemma":0.00007392534,"domain_scores_codex":[0.9990094,0.0002035806,0.0002274029,0.0001658297,0.0002139735,0.00017976],"domain_scores_gemma":[0.9991344,0.00004599279,0.0003412164,0.0001873544,0.000155623,0.000135377],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002809109,0.001956753,0.721885,0.00002695696,0.001287077,0.0003633452,0.005083053,0.004508219,0.2182515,0.0001236836,0.02092846,0.02277686],"study_design_scores_gemma":[0.0006942161,0.005555058,0.9903053,0.00001252411,0.00006916082,0.0005407964,0.00102352,0.0000351274,0.0007969125,0.0003482609,0.0004417331,0.0001773851],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998689,0.0004353849,0.0001042231,0.0005530045,0.00004605762,0.00008356302,0.000008195046,0.00000334911,0.0000772398],"genre_scores_gemma":[0.9988234,0.0002251719,0.0003161702,0.0005088544,0.00003988411,0.000001844125,0.000009748154,0.00001915097,0.00005574418],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2684203,"threshold_uncertainty_score":0.3761863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02196990885247093,"score_gpt":0.253628562980646,"score_spread":0.2316586541281751,"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."}}