{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003709651,0.0001708128,0.0002019187,0.0000661495,0.0001108614,0.00007066081,0.00008068443,0.0001127195,0.000005636733],"category_scores_gemma":[0.00000757564,0.0001458898,0.00004480166,0.00007183487,0.0002501954,0.000008775079,0.00007155327,0.00007429325,8.711749e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006904247,"about_ca_system_score_gemma":0.00003630827,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002489755,"about_ca_topic_score_gemma":0.00004990025,"domain_scores_codex":[0.9988259,0.00005760276,0.0004006281,0.0004490237,0.0001188023,0.0001480402],"domain_scores_gemma":[0.9994744,0.00003596529,0.0001196603,0.000203328,0.00009275523,0.00007390144],"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":[0.0001427375,0.00008529798,0.04881155,0.0002925942,0.0001739526,0.000008466899,0.0002830981,0.0003936251,0.8056562,0.005551886,0.00003864955,0.1385619],"study_design_scores_gemma":[0.001575229,0.003567775,0.2119148,0.0001571877,0.0001896523,0.00004769315,0.0003852736,0.001269268,0.3145152,0.02149318,0.4438747,0.001010013],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9024305,0.0804695,0.01653571,0.00003621299,0.00009968184,0.0002181949,0.00003152958,0.00000946993,0.0001691911],"genre_scores_gemma":[0.9654361,0.02181841,0.01227516,0.000009096429,0.0001787371,0.0000123476,0.0001582133,0.00002977872,0.00008213044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.491141,"threshold_uncertainty_score":0.5949214,"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."}}