{"id":"W4280558056","doi":"10.1038/s10038-022-01043-y","title":"Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case","year":2022,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Kabuki syndrome; Epigenomics; Exome sequencing; DNA methylation; Genetics; Biology; Epigenetics; Copy-number variation; Genomics; Macrocephaly; Computational biology; Bioinformatics; Phenotype; Gene; Genome","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":[0.0004026051,0.0001304894,0.0001763084,0.0001090957,0.0003192425,0.00004219362,0.0001530117,0.00005340223,0.00005134154],"category_scores_gemma":[0.00005843088,0.0001317089,0.000113132,0.00006416503,0.00004437756,0.000004094952,0.0001774484,0.0001487115,8.306815e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005986106,"about_ca_system_score_gemma":0.0001570458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002462835,"about_ca_topic_score_gemma":0.000006831534,"domain_scores_codex":[0.9989379,0.0001162939,0.0003968015,0.0001865697,0.0001807238,0.0001817026],"domain_scores_gemma":[0.9991944,0.0000236889,0.0003224662,0.0001877504,0.000139774,0.0001319545],"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":[0.00005960704,0.00005325288,0.004777447,0.00002203571,0.00009381102,0.001521814,0.0002196296,0.002612995,0.9901405,0.000003368145,0.000111819,0.0003837488],"study_design_scores_gemma":[0.007373483,0.008680732,0.07346753,0.00007011274,0.0009710149,0.0334332,0.005452724,0.001392787,0.8491067,0.001699798,0.01642168,0.001930232],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928381,0.006582359,0.0002134113,0.00004358952,0.00008963521,0.0001437157,0.00002414767,0.000003353104,0.00006171117],"genre_scores_gemma":[0.9980733,0.0002116523,0.001074451,0.0001281801,0.0002636997,0.000005543227,0.00005269663,0.00002782047,0.0001626098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1410338,"threshold_uncertainty_score":0.5370933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01708566291354025,"score_gpt":0.2571084597868069,"score_spread":0.2400227968732666,"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."}}