{"id":"W6901494417","doi":"10.60692/cf7kw-6b424","title":"ANKRD11 variants: KBG syndrome and beyond","year":2021,"lang":"en","type":"article","venue":"Greater South Information System","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Phenotype; Clinical phenotype; Developmental disorder; Chromatin; Intellectual disability; Medical diagnosis; Nosology","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":[0.0001075344,0.0001084296,0.0001167589,0.00003786204,0.00007684289,0.0001060026,0.00007281885,0.0001105393,0.00001080753],"category_scores_gemma":[0.00001095947,0.0001026014,0.00003748715,0.00006126286,0.00001808972,0.0000138754,0.0001025708,0.00003709128,0.00006998917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001522109,"about_ca_system_score_gemma":0.00004071639,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001064137,"about_ca_topic_score_gemma":2.550272e-7,"domain_scores_codex":[0.9993512,0.00002502092,0.0002622607,0.0001351397,0.00008629233,0.000140086],"domain_scores_gemma":[0.9994521,9.742399e-7,0.000101686,0.0002804291,0.0001018674,0.00006296473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004123017,0.00006847388,0.8317378,0.006375568,0.002164188,0.0005258428,0.1067159,0.002058391,0.02243635,0.01452145,0.005110303,0.007873472],"study_design_scores_gemma":[0.01021122,0.0009207754,0.8056728,0.0004443612,0.0003063052,0.01698604,0.07650565,0.02507039,0.03964245,0.00007189482,0.02107419,0.003093977],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879023,0.00002324594,0.006504794,0.00003433814,0.0001891919,0.00009168476,0.0001124825,0.00001997331,0.005122017],"genre_scores_gemma":[0.9984881,0.000001521889,0.000821672,0.0002258862,0.00003559262,0.00001159446,0.0001450223,0.000008190827,0.0002624172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03021025,"threshold_uncertainty_score":0.4183964,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00820859545993509,"score_gpt":0.1776810818117406,"score_spread":0.1694724863518055,"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."}}