{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001390634,0.0007536832,0.0005618251,0.001676724,0.0002765837,0.0009231881,0.0005711877,0.000963848,0.004844453],"category_scores_gemma":[0.005326902,0.0002523205,0.0003589973,0.0005249545,0.000456868,0.0005778755,0.0006289195,0.001076029,0.0008127657],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004419479,"about_ca_system_score_gemma":0.0003337417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001360429,"about_ca_topic_score_gemma":0.001619405,"domain_scores_codex":[0.9990457,0.0002557331,0.0000747851,0.000260134,0.0002585659,0.0001051076],"domain_scores_gemma":[0.9980692,0.001053749,0.0002109554,0.000188549,0.0003345953,0.0001430307],"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":[0.002359477,0.0002790102,0.3379014,0.0003784142,0.0003665051,0.003269265,0.0002519491,0.002422619,0.396861,0.004118646,0.004904454,0.2468873],"study_design_scores_gemma":[0.0001495419,0.001364514,0.39949,0.0003059686,0.0009637232,0.01892106,0.0003336817,0.02559667,0.5074525,0.01713516,0.02819253,0.00009464207],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8996093,0.01376107,0.05245069,0.006594982,0.0005221816,0.0001068111,0.003948267,0.002172591,0.02083419],"genre_scores_gemma":[0.9839597,0.002269684,0.009551317,0.0005879244,0.0001581712,0.00002086883,0.0006859721,0.00009813,0.002668197],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004844453,"threshold_uncertainty_score":0.01620632,"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."}}