{"id":"W4311613121","doi":"10.3389/fcell.2022.1022683","title":"Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature","year":2022,"lang":"en","type":"article","venue":"Frontiers in Cell and Developmental Biology","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; London Health Sciences Centre; Western University","funders":"Government of Canada; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"DNA methylation; Biology; Genetics; Methylation; DNA; Evolutionary biology; Gene; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000142454,0.001051482,0.000531323,0.0009566457,0.000816484,0.0005183833,0.0006837812,0.001961426,0.001622023],"category_scores_gemma":[0.001030567,0.0004250037,0.000390881,0.0005319527,0.0009318592,0.0004470501,0.0008811358,0.001283067,0.0002645313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004762884,"about_ca_system_score_gemma":0.0003594108,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001799924,"about_ca_topic_score_gemma":0.001657125,"domain_scores_codex":[0.9997441,0.00002327561,0.00002315711,0.0001110817,0.0000447851,0.00005355629],"domain_scores_gemma":[0.999608,0.0001270093,0.00009021983,0.00002397723,0.00002238471,0.0001284958],"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":[0.00003729453,0.00002155889,0.004374411,0.0000175499,0.000007329511,0.9872532,0.000266539,0.00009291992,0.006302081,0.0003556812,0.00007986636,0.00119153],"study_design_scores_gemma":[0.00001289626,0.0001261046,0.01152974,0.0000094162,0.00002068588,0.9836004,0.0001406504,0.0004534981,0.002980408,0.0003143243,0.0007951434,0.00001666938],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939207,0.0007292902,0.002165527,0.000632056,0.00005142504,0.00006511331,0.0001976549,0.00005528535,0.00218294],"genre_scores_gemma":[0.9968551,0.0003678084,0.001408985,0.0001733845,0.00005789847,0.0000131912,0.00009435288,0.00001253294,0.001016624],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001961426,"threshold_uncertainty_score":0.005426228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006465141819940725,"score_gpt":0.2198475461590366,"score_spread":0.2133824043390958,"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."}}