{"id":"W4389903929","doi":"10.1016/j.gim.2023.101050","title":"DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Government of Canada; Amsterdam University Medical Centers; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"DNA methylation; Epigenetics; Phenotype; Autism; Autism spectrum disorder; Intellectual disability; Biomarker; Genetics; Epigenomics; Medicine; Bioinformatics; Computational biology; Biology; Psychiatry; Gene","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":[0.001414331,0.000109263,0.0003289153,0.0001249153,0.00002441891,0.000001998287,0.0001772254,0.0001744324,0.000006064725],"category_scores_gemma":[0.0006942554,0.00008367784,0.00002978733,0.0004082626,0.0003034575,0.000001815196,0.0001655971,0.0002368791,5.822042e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001550032,"about_ca_system_score_gemma":0.00006455454,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001062543,"about_ca_topic_score_gemma":0.0003561392,"domain_scores_codex":[0.9984476,0.0004066116,0.0004317456,0.0003160681,0.00021655,0.0001814224],"domain_scores_gemma":[0.9992306,0.0001922676,0.0001304981,0.0003050013,0.0001044848,0.00003710417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001086873,0.00005961429,0.05476823,0.00004814091,0.00003322344,0.000006602837,0.0003095646,0.0002590633,0.9416109,0.00005717859,0.0004714952,0.002267352],"study_design_scores_gemma":[0.001851866,0.0004592214,0.8385869,0.0001072762,0.00001399884,0.000005249008,0.0006268364,0.0007851861,0.1567291,0.0006063518,0.0001350137,0.0000929767],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910474,0.007812845,0.0001145394,0.0003232382,0.00009895088,0.0005031629,0.00001934444,0.000002426631,0.00007813524],"genre_scores_gemma":[0.9979815,0.001598451,0.0001679279,0.00003406188,0.00002617374,0.00001163824,0.00008897382,0.00001054449,0.00008075049],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7848817,"threshold_uncertainty_score":0.3412283,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0776391254089043,"score_gpt":0.3982514479335127,"score_spread":0.3206123225246084,"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."}}