{"id":"W2109300513","doi":"10.1111/j.1399-0004.2010.01586.x","title":"Insight into the genetic cause underlying Kabuki syndrome","year":2010,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Kabuki syndrome; Kabuki; Exome sequencing; Genetics; Exome; Biology; Mutation; Evolutionary biology; Gene","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":["metaepi_narrow","research_integrity"],"consensus_categories":["research_integrity"],"category_scores_codex":[0.0003009445,0.0005467926,0.0005225074,0.00006021209,0.0002718657,0.0001423372,0.001297118,0.003510719,0.00007383635],"category_scores_gemma":[0.0002802673,0.0004075824,0.0006166698,0.0001072021,0.0006566505,0.000001474163,0.0006608391,0.003120824,0.0001628698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001669856,"about_ca_system_score_gemma":0.0004673018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001909303,"about_ca_topic_score_gemma":0.0000837392,"domain_scores_codex":[0.9967691,0.0002785872,0.0009651405,0.00105556,0.0003347312,0.0005969211],"domain_scores_gemma":[0.9970496,0.0001857637,0.0003625434,0.001991215,0.0001903225,0.0002205572],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000397275,0.0001755521,0.003752108,0.0001508058,0.0008492999,0.00161975,0.0001246924,0.00007896491,0.004021353,0.000005696018,0.9731135,0.01606857],"study_design_scores_gemma":[0.0003598238,0.000401772,0.006277434,0.00003578068,0.000321502,0.0002253147,0.00001216104,0.00003808998,0.0001855437,0.0003337967,0.9912059,0.0006028448],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.8366292,0.02517681,0.0003606227,0.1304646,0.005490489,0.0009923151,0.0001407944,0.00004893927,0.0006962555],"genre_scores_gemma":[0.1919325,0.01974722,0.003705456,0.7679964,0.009806887,0.0001105883,0.001663833,0.0003650369,0.00467211],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.6446967,"threshold_uncertainty_score":0.9998376,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0563913247929688,"score_gpt":0.3408115359372836,"score_spread":0.2844202111443148,"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."}}