{"id":"W2954271449","doi":"10.1002/humu.23833","title":"Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario; London Health Sciences Centre; Western University","funders":"Association for Molecular Pathology","keywords":"Kabuki syndrome; Biology; Genetics; Missense mutation; Frameshift mutation; Exon; DNA methylation; Proband; Genome; Phenotype; Gene; Mutation","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":[0.0001521882,0.000480153,0.0002428183,0.0006838464,0.0004414686,0.0002938095,0.0001898028,0.000700083,0.000793843],"category_scores_gemma":[0.001009627,0.0001463187,0.0001314296,0.0002187035,0.0003506159,0.0001518182,0.0002434458,0.0003803514,0.0001928285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001694658,"about_ca_system_score_gemma":0.0001490518,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008018886,"about_ca_topic_score_gemma":0.001211039,"domain_scores_codex":[0.9998274,0.00002421435,0.00001987797,0.00006208956,0.000033851,0.00003258364],"domain_scores_gemma":[0.9997894,0.0000977575,0.00003112938,0.00001311802,0.00001683579,0.00005179601],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000539377,0.0001170136,0.2719983,0.00007305795,0.00004989613,0.3294066,0.001390597,0.0005566095,0.3669783,0.0005341258,0.0004215812,0.02793458],"study_design_scores_gemma":[0.00004369416,0.0004570564,0.2769845,0.00002635737,0.0001228356,0.638293,0.0006489294,0.003999111,0.07677194,0.0006745546,0.001932413,0.00004550985],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983382,0.0001473548,0.0009502309,0.0001157152,0.00000594972,0.000008407261,0.00005823993,0.00002354298,0.0003523281],"genre_scores_gemma":[0.9990085,0.00005200507,0.0007468931,0.00003250322,0.000006665377,0.000002740089,0.00003612379,0.00000549844,0.0001090435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0008018886,"threshold_uncertainty_score":0.002655685,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03860730608462029,"score_gpt":0.3364431950502638,"score_spread":0.2978358889656435,"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."}}