{"id":"W3217052296","doi":"10.1016/j.gim.2021.08.007","title":"DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies","year":2021,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":47,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; London Health Sciences Centre","funders":"","keywords":"DNA methylation; Genetics; Methylation; Biology; Computational biology; DNA sequencing; DNA; Bioinformatics; 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":[0.0002103051,0.0001351518,0.0002137909,0.00006955064,0.00002895822,0.000005752202,0.0001309805,0.0001281848,0.00002067856],"category_scores_gemma":[0.0007523988,0.0001233184,0.00004580996,0.0002373734,0.00009423304,0.00000145025,0.0001021158,0.00007991892,6.805803e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009654788,"about_ca_system_score_gemma":0.0001038857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000171785,"about_ca_topic_score_gemma":0.00003025493,"domain_scores_codex":[0.9989682,0.00007181131,0.0003322808,0.0002921054,0.0001640209,0.0001715153],"domain_scores_gemma":[0.9992418,0.00004158849,0.0001194134,0.0003197978,0.0002125848,0.00006484515],"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":[0.000008093765,0.00004889524,0.01028515,0.00007375158,0.00002594146,0.00003196978,0.00009386423,0.0003149975,0.9760597,0.00004373858,0.0001947389,0.01281912],"study_design_scores_gemma":[0.0005282592,0.0002624376,0.02655776,0.000108274,0.00004383549,0.00001212388,0.0003033569,0.0001958521,0.9697325,0.0009413774,0.001171632,0.0001426183],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9750453,0.02344634,0.0003490876,0.0002937339,0.0001487988,0.0001144934,0.00001709095,0.000005083268,0.0005800416],"genre_scores_gemma":[0.9920936,0.001510379,0.00573375,0.0002764472,0.000159406,0.00002075297,0.0001502877,0.00001974208,0.00003566713],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02193596,"threshold_uncertainty_score":0.5028777,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01431627594003995,"score_gpt":0.2692572279060633,"score_spread":0.2549409519660233,"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."}}