{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001079761,0.0002005905,0.0002762163,0.0002218906,0.000187254,0.000009847437,0.0003302613,0.0001322605,0.00008388962],"category_scores_gemma":[0.000300198,0.0002026241,0.00006308093,0.0004179493,0.00006008568,0.000002194125,0.0002053253,0.0001862169,0.000003212401],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005820428,"about_ca_system_score_gemma":0.00008252786,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001575105,"about_ca_topic_score_gemma":0.00003911154,"domain_scores_codex":[0.9981573,0.0001373283,0.0004273701,0.0005416879,0.000383246,0.0003530614],"domain_scores_gemma":[0.9991236,0.00005975646,0.0001171155,0.0004541524,0.0001190736,0.0001263342],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001910343,0.0001720851,0.00190323,0.0000450627,0.00003148341,0.00003164549,0.0005893577,0.02802228,0.9498085,0.0002936921,0.001982186,0.01692939],"study_design_scores_gemma":[0.007093303,0.01712064,0.0964409,0.0001083815,0.000169755,0.0001685139,0.001505473,0.005823234,0.3789936,0.01422903,0.4766488,0.001698318],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9444634,0.006936954,0.0448195,0.001681356,0.0006672348,0.0008516748,0.00004901515,0.00001447738,0.0005164383],"genre_scores_gemma":[0.9911503,0.0001704916,0.006451409,0.0008058127,0.000303113,0.0002202498,0.0003654038,0.00004452761,0.0004887117],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.570815,"threshold_uncertainty_score":0.8262773,"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."}}