{"id":"W3158729684","doi":"10.1111/cge.13977","title":"<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond","year":2021,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","keywords":"Phenotype; Intellectual disability; Genetics; Developmental disorder; Clinical phenotype; Chromatin; Biology; Medicine; Gene; Autism; Psychiatry","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":[0.0001687095,0.001125103,0.0004096749,0.0008630731,0.0004807695,0.0004612438,0.0004109163,0.0005102766,0.003854741],"category_scores_gemma":[0.0006575803,0.0001201328,0.0002814909,0.0006854802,0.0006524231,0.0002736802,0.0005335649,0.0003898816,0.0006216451],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002867767,"about_ca_system_score_gemma":0.0002761555,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002422622,"about_ca_topic_score_gemma":0.002337994,"domain_scores_codex":[0.9997056,0.00002885818,0.00004273516,0.0001274243,0.00005172089,0.00004363001],"domain_scores_gemma":[0.9996808,0.00006790017,0.00009942886,0.00003164054,0.00003710173,0.00008327589],"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":[0.0008359042,0.0001392386,0.3329611,0.0003938945,0.0002107328,0.1743896,0.002230458,0.0007134106,0.4161397,0.002064666,0.002087172,0.06783411],"study_design_scores_gemma":[0.00005402236,0.0002919692,0.5271713,0.0001198443,0.0001918229,0.3816183,0.000598472,0.0005400019,0.07308065,0.001092448,0.01518791,0.0000533427],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915919,0.001303594,0.00175313,0.0001336538,0.00001964791,0.00003106062,0.0007320739,0.00009722568,0.004337696],"genre_scores_gemma":[0.9966619,0.000334574,0.001177628,0.00007288207,0.0000228927,0.00001230954,0.0005179467,0.0000260153,0.001173823],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003854741,"threshold_uncertainty_score":0.01289541,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01392778224855801,"score_gpt":0.2768827703985594,"score_spread":0.2629549881500014,"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."}}