{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001819818,0.0004982774,0.0003603794,0.001550952,0.0002782065,0.0005632513,0.0005989296,0.0003408455,0.002352104],"category_scores_gemma":[0.003136235,0.0001885972,0.0001578373,0.0008295556,0.0003918129,0.0002133787,0.0008135902,0.000467642,0.0007290603],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006876722,"about_ca_system_score_gemma":0.001475039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007926535,"about_ca_topic_score_gemma":0.01555725,"domain_scores_codex":[0.9988398,0.0004549447,0.00006712943,0.0002173756,0.0003470001,0.00007374695],"domain_scores_gemma":[0.9986994,0.0003687492,0.0002851266,0.0001564,0.0003391168,0.0001512111],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001703427,0.000236283,0.4934703,0.0004657671,0.0002211236,0.001184869,0.0003312729,0.002633318,0.07976098,0.00238112,0.01262093,0.4049906],"study_design_scores_gemma":[0.0002272902,0.001025638,0.8063838,0.0002287009,0.0002156925,0.01030274,0.0002132312,0.01549955,0.1134611,0.002565998,0.04979816,0.00007812788],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7570393,0.01318292,0.1510561,0.005329823,0.000190921,0.002163502,0.01770985,0.008445983,0.04488155],"genre_scores_gemma":[0.8902431,0.002179725,0.09580529,0.00114176,0.000182146,0.0005085765,0.005054988,0.0002169657,0.004667512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007926535,"threshold_uncertainty_score":0.01576078,"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."}}