{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001562618,0.001021764,0.000568545,0.0008268215,0.0004812404,0.0005382962,0.0004490345,0.0008261572,0.004061488],"category_scores_gemma":[0.0006729054,0.0001493514,0.0002197679,0.0008269425,0.0006696114,0.0004204463,0.0006968261,0.0003943579,0.0005190641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002475622,"about_ca_system_score_gemma":0.0002614312,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001879445,"about_ca_topic_score_gemma":0.001680032,"domain_scores_codex":[0.9996892,0.00003532137,0.00003813619,0.0001419107,0.00004998128,0.00004545747],"domain_scores_gemma":[0.9997273,0.00007477107,0.00008004088,0.0000300665,0.00002458723,0.00006317714],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0009405564,0.0001427645,0.2935885,0.0004961174,0.0001985925,0.3768237,0.003653828,0.0008641045,0.2246469,0.004112874,0.001955918,0.09257608],"study_design_scores_gemma":[0.0000970104,0.0002715393,0.4613745,0.0002316321,0.0002064849,0.4858676,0.001104121,0.0007001969,0.02443685,0.003619625,0.02199998,0.00009042209],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910367,0.003340276,0.001157417,0.0002597168,0.00002760805,0.00001890661,0.0004118087,0.00006017932,0.003687404],"genre_scores_gemma":[0.9966559,0.0008066944,0.0007968962,0.00009928004,0.00003637667,0.00000836251,0.000285571,0.00001668052,0.001294149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004061488,"threshold_uncertainty_score":0.01358706,"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."}}