{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006780725,0.0007250721,0.0009464871,0.0006317858,0.001004555,0.001054805,0.001034354,0.01489663,0.002631484],"category_scores_gemma":[0.005274235,0.0004924341,0.0007025704,0.0003575065,0.001390214,0.001612488,0.000723091,0.009715011,0.002127788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001669512,"about_ca_system_score_gemma":0.0006286471,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001320773,"about_ca_topic_score_gemma":0.0009133144,"domain_scores_codex":[0.9994972,0.000111566,0.00008251148,0.00006692552,0.0001285524,0.0001131663],"domain_scores_gemma":[0.998517,0.0008641793,0.00008175345,0.00007897923,0.0002737551,0.0001842943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008924962,0.0001752174,0.013226,0.0004260966,0.0001274721,0.5309258,0.0004906377,0.001240075,0.01477006,0.01591009,0.3658875,0.05592852],"study_design_scores_gemma":[0.0007371669,0.0003470729,0.0120157,0.0004373279,0.0002482046,0.6772516,0.0004733015,0.008936072,0.005466907,0.05423955,0.2396771,0.000169886],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.04945219,0.01586829,0.002937862,0.8904065,0.0191938,0.00006201579,0.0003655355,0.0003617533,0.02135201],"genre_scores_gemma":[0.4746347,0.0181952,0.004076755,0.3765423,0.1104543,0.00009864425,0.000240746,0.00009292442,0.01566441],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01489663,"threshold_uncertainty_score":0.01211321,"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."}}