{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003144814,0.0008171978,0.0006383036,0.001227905,0.001283631,0.0009610357,0.00104413,0.00361583,0.001613273],"category_scores_gemma":[0.00269498,0.0004193136,0.0006961653,0.0007173647,0.0008253971,0.000836645,0.0007859988,0.002012361,0.0006064533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001024678,"about_ca_system_score_gemma":0.0006430133,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003051168,"about_ca_topic_score_gemma":0.003561482,"domain_scores_codex":[0.9995503,0.00003935356,0.00003646172,0.000186249,0.00008317138,0.0001044453],"domain_scores_gemma":[0.9990024,0.0002845844,0.0001140154,0.00009679679,0.0001784394,0.0003238364],"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":[0.0001556864,0.0000835133,0.03436723,0.00003369564,0.00003002931,0.9451889,0.0004121978,0.000405644,0.007651821,0.0008417979,0.001836781,0.00899267],"study_design_scores_gemma":[0.00001203355,0.0001339312,0.02024708,0.00004555849,0.00009627282,0.9674416,0.0005344391,0.002449966,0.005054776,0.001259172,0.002690541,0.00003461441],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9734275,0.002213984,0.008752271,0.009645119,0.0004205914,0.00007330122,0.0007113164,0.0002635925,0.004492426],"genre_scores_gemma":[0.9944806,0.0004220603,0.002616223,0.001025723,0.0001769468,0.00000936077,0.0001896053,0.00003701819,0.001042262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00361583,"threshold_uncertainty_score":0.007434607,"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."}}