{"id":"W2760109555","doi":"10.1080/15592294.2017.1381807","title":"The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance","year":2017,"lang":"en","type":"article","venue":"Epigenetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; McMaster University; London Health Sciences Centre; Western University","funders":"","keywords":"Biology; DNA methylation; Epigenetics; Genetics; Methylation; CpG site; Kabuki syndrome; Histone; Illumina Methylation Assay; Gene; Gene expression","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":[0.0004518313,0.0001234497,0.0002376269,0.00002356772,0.0001816131,0.00001865148,0.0003757494,0.0001665898,0.00001324541],"category_scores_gemma":[0.0002964722,0.00009742335,0.0001641332,0.00003533884,0.0003159581,0.000002794643,0.00015214,0.00008579218,6.525418e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006476198,"about_ca_system_score_gemma":0.0003233556,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000153203,"about_ca_topic_score_gemma":0.00002384576,"domain_scores_codex":[0.9987134,0.0001051224,0.0005734468,0.0002463167,0.0002029355,0.0001587245],"domain_scores_gemma":[0.9981654,0.000108815,0.000717157,0.000685498,0.0002639833,0.00005915109],"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":[0.0001652096,0.0004208438,0.1840778,0.0001499327,0.0005675136,0.000009368176,0.00003871312,0.006516113,0.7880204,0.002906163,0.0004120876,0.01671581],"study_design_scores_gemma":[0.0004084042,0.0004161561,0.9398295,0.00003816999,0.00008698965,0.000004474504,0.00003493815,0.0003743951,0.05613368,0.0008284018,0.001720678,0.0001242108],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910086,0.004585986,0.00331888,0.00005572143,0.0003804051,0.000164988,0.0001022268,0.000001965322,0.000381204],"genre_scores_gemma":[0.9934098,0.002256337,0.004045296,0.00001339867,0.00007836766,0.000007915894,0.00005173622,0.00001617147,0.0001210495],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7557517,"threshold_uncertainty_score":0.3972809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02233717777324067,"score_gpt":0.313311535676672,"score_spread":0.2909743579034313,"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."}}