{"id":"W4393321211","doi":"10.1016/j.xhgg.2024.100287","title":"Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles","year":2024,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Manchester Biomedical Research Centre; Janivo Stichting; Ontario Genomics Institute; Children's Hospital Foundation; Government of Canada; Children’s Hospital Foundation; National Institute for Health and Care Research; Genome Canada; Ontario Genomics; Ministero della Salute; Amsterdam University Medical Centers","keywords":"DNA methylation; Computational biology; Methylation; Domain (mathematical analysis); Biology; Genetics; DNA; Evolutionary biology; Medicine; Bioinformatics; Gene; Mathematics; 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":[0.0001816424,0.000386814,0.0003104536,0.001047605,0.0002628508,0.0001940699,0.0001939062,0.0002864682,0.001156989],"category_scores_gemma":[0.0005568468,0.0001223831,0.0001809674,0.0002898901,0.0003384304,0.0001336584,0.0003113487,0.0001589601,0.0002339698],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001433343,"about_ca_system_score_gemma":0.0001563588,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001346612,"about_ca_topic_score_gemma":0.002005616,"domain_scores_codex":[0.9998444,0.00002150154,0.00001936841,0.00006523612,0.00002846815,0.00002097295],"domain_scores_gemma":[0.9998164,0.00005166165,0.00004869305,0.0000163666,0.00001656814,0.00005032404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001779533,0.0001051116,0.8044336,0.0001187665,0.0001498615,0.01657089,0.0009860233,0.0004230846,0.1550879,0.0005948586,0.0003810882,0.01936929],"study_design_scores_gemma":[0.00006215177,0.0002812993,0.9382465,0.00001777673,0.00005855705,0.05205926,0.0002844982,0.0005353193,0.006885117,0.0002700589,0.001278448,0.00002098444],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989086,0.0002238602,0.0002263986,0.00001163238,0.000001439938,0.000010506,0.0001669311,0.000007337868,0.0004433283],"genre_scores_gemma":[0.9988918,0.00008547257,0.0003508716,0.00001398692,0.000004719872,0.000009337809,0.000251672,0.000003794264,0.0003883327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001346612,"threshold_uncertainty_score":0.003870487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01799357436335033,"score_gpt":0.2980788648424372,"score_spread":0.2800852904790869,"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."}}