{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001970552,0.00007342048,0.0001547571,0.00007064785,0.00002038558,0.000007044367,0.00004900396,0.00005193199,0.00001103069],"category_scores_gemma":[0.0000369519,0.00006548093,0.00003249232,0.00009312709,0.00004804571,0.00000747973,0.00001619775,0.00003270183,9.452778e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001261564,"about_ca_system_score_gemma":0.00005981708,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007711551,"about_ca_topic_score_gemma":0.00005830025,"domain_scores_codex":[0.9991762,0.00009353301,0.0003396641,0.0002263913,0.00008655404,0.00007767184],"domain_scores_gemma":[0.9993997,0.00002675485,0.0002797862,0.0001672121,0.00009764134,0.00002894059],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001242934,0.0001270961,0.02826897,0.0000636427,0.00005184175,0.000006819296,0.0001612272,0.003565571,0.9656826,0.00009565018,0.000002729565,0.00184954],"study_design_scores_gemma":[0.00140241,0.001285833,0.8867846,0.0000682391,0.0000626165,0.00001101349,0.0003762701,0.0007405069,0.1082447,0.0008067866,0.00004563448,0.0001713238],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987785,0.0002678702,0.0004865851,0.000009017427,0.00001912218,0.0002643487,0.00001378465,0.000002067105,0.0001586765],"genre_scores_gemma":[0.9991429,0.00005229661,0.000482728,0.00001344234,0.000009629889,0.00001204583,0.0002503086,0.000008562928,0.00002808001],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8585157,"threshold_uncertainty_score":0.2670235,"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."}}