{"id":"W3128433086","doi":"10.1038/s41436-020-01096-4","title":"Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":200,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Genome Canada","keywords":"Medicine; Cohort; Genetic testing; DNA methylation; Mendelian inheritance; Epigenomics; Genetics; Bioinformatics; Internal medicine; Biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006651045,0.0001207871,0.0003095914,0.00008601508,0.00005460028,0.000005735877,0.0002190893,0.000109846,0.00004881958],"category_scores_gemma":[0.000581079,0.00009109922,0.0002328839,0.0003068025,0.0001643275,9.343094e-7,0.00009197387,0.00006196513,6.786527e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001108777,"about_ca_system_score_gemma":0.000102059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002720115,"about_ca_topic_score_gemma":0.0009800047,"domain_scores_codex":[0.9987105,0.00009719546,0.0005542838,0.0003398782,0.0001170393,0.0001811295],"domain_scores_gemma":[0.998868,0.0002653217,0.0001539473,0.0004951667,0.0001474616,0.00007008214],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001038269,0.0002038916,0.939267,0.00004880952,0.001262884,0.000003477058,0.0002278029,0.01152025,0.01897135,0.00006652511,0.0007018743,0.02762226],"study_design_scores_gemma":[0.001621765,0.0004392876,0.8818659,0.00001601024,0.001337367,0.000001057854,0.001028376,0.001552796,0.01784693,0.001467479,0.09257198,0.0002510482],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9555486,0.02531419,0.01687778,0.001508207,0.0002553838,0.0002891067,0.00007113852,0.000002489646,0.0001330407],"genre_scores_gemma":[0.9641576,0.03281047,0.00170272,0.0004792606,0.0002674464,0.00005783019,0.0004260619,0.00001663901,0.00008189728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09187011,"threshold_uncertainty_score":0.3714918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02986279767717913,"score_gpt":0.3363950404328907,"score_spread":0.3065322427557116,"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."}}