{"id":"W4309258249","doi":"10.1016/j.gim.2022.10.004","title":"DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Commission; Government of Canada; Genome Canada; Ontario Genomics; Radboud Universiteit; Ontario Genomics Institute","keywords":"Haploinsufficiency; DNA methylation; Epigenetics; Genetics; Phenotype; Biology; Human genetics; 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":[0.0001142329,0.0003807084,0.000209745,0.0009365531,0.0002523989,0.0001864279,0.0002542752,0.000530349,0.00722957],"category_scores_gemma":[0.000324545,0.0001852324,0.0003373194,0.0003083516,0.0003856003,0.0001530319,0.0003309005,0.0003666717,0.0005355229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001958582,"about_ca_system_score_gemma":0.0002219808,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001803074,"about_ca_topic_score_gemma":0.001731224,"domain_scores_codex":[0.9998916,0.00001346473,0.00002192063,0.00002535573,0.00002514845,0.00002238773],"domain_scores_gemma":[0.9998668,0.00005342955,0.00002096962,0.000010997,0.000008609329,0.00003913137],"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":[0.0006932231,0.0001053053,0.004596163,0.00008088913,0.00005811116,0.04223934,0.0001340741,0.0002903112,0.9374889,0.0009941239,0.0004064292,0.01291315],"study_design_scores_gemma":[0.0001957471,0.0005858857,0.04658896,0.00003421349,0.0002313305,0.1229426,0.0001621733,0.004058979,0.8141922,0.001175153,0.009778978,0.00005377643],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9899073,0.0005821392,0.003872996,0.0003593056,0.00007345247,0.00004846709,0.0004425826,0.0001905699,0.004523185],"genre_scores_gemma":[0.995617,0.0002440682,0.001398441,0.00005719392,0.00001056377,0.00001862415,0.0002555094,0.00006631238,0.002332293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00722957,"threshold_uncertainty_score":0.0241853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01837664895146425,"score_gpt":0.2972539135148439,"score_spread":0.2788772645633797,"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."}}