{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003213148,0.0002017411,0.0002880109,0.00001745699,0.00008850468,0.00006500608,0.0002267661,0.0003789829,0.00001525618],"category_scores_gemma":[0.0004878087,0.0002127396,0.0001479922,0.00009357332,0.0001852476,0.000002028908,0.0004485151,0.000193394,0.00003270156],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006495533,"about_ca_system_score_gemma":0.0001684967,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":9.780242e-7,"about_ca_topic_score_gemma":0.00001292812,"domain_scores_codex":[0.9982964,0.0001115473,0.0005347668,0.0006015304,0.0001278657,0.000327831],"domain_scores_gemma":[0.9987391,0.0001145938,0.0001252234,0.0006383733,0.000137984,0.000244734],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005655292,0.002543547,0.2321622,0.0003951864,0.001710593,0.001215268,0.000361248,0.0008242063,0.6278228,0.003582495,0.07043109,0.05889482],"study_design_scores_gemma":[0.00491442,0.002582524,0.3081838,0.00006443923,0.0004261411,0.001973692,0.0007439559,0.004621932,0.04035748,0.007848924,0.6274045,0.0008782469],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896952,0.004293361,0.001181823,0.000155653,0.0005537262,0.000107429,0.00006649875,0.00001371343,0.003932611],"genre_scores_gemma":[0.9737874,0.00742641,0.01247848,0.002401042,0.0003726622,0.00000842945,0.0002402708,0.00005573242,0.003229544],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5874653,"threshold_uncertainty_score":0.8675271,"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."}}