{"id":"W4413039368","doi":"10.3390/genes16080933","title":"Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson–Forssman–Lehmann (BFLS) and White–Kernohan (WHIKERS) Syndromes","year":2025,"lang":"en","type":"article","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"Pierce Armstrong Foundation; Translational Genomics Research Institute; Royal Children's Hospital Foundation","keywords":"Epigenetics; Proband; Genetics; Biology; DNA methylation; Gene; Genetic testing; Phenotype; Genomic imprinting; Intellectual disability; Genome; Global developmental delay; Human genetics; Medical genetics; Clinical significance; Bioinformatics; Medicine; Mutation; Gene expression; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0009015133,0.000446599,0.0002841726,0.001995477,0.0002278723,0.0005766362,0.0003485896,0.0006250943,0.0009240272],"category_scores_gemma":[0.002192647,0.0001625663,0.0002335632,0.0004686807,0.0004556089,0.0003819456,0.0005941579,0.0004458028,0.0001508881],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003344243,"about_ca_system_score_gemma":0.0003706082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001409031,"about_ca_topic_score_gemma":0.002435524,"domain_scores_codex":[0.9996516,0.00006822142,0.00005126539,0.0000622862,0.0001053571,0.00006140363],"domain_scores_gemma":[0.9993597,0.0002985414,0.0001041773,0.00002477918,0.00008906492,0.0001238421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008374457,0.0001114422,0.790527,0.0001337059,0.0000870949,0.03121596,0.0005065317,0.001044993,0.1081851,0.0005908978,0.00067599,0.06608383],"study_design_scores_gemma":[0.00006090773,0.0005982647,0.7923665,0.0002006997,0.0001876967,0.1165281,0.0008930587,0.01015075,0.07352468,0.001570699,0.003861474,0.00005712799],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933617,0.001405895,0.002572274,0.0004033327,0.00002350322,0.0000303606,0.0001716897,0.00006143653,0.001969724],"genre_scores_gemma":[0.9933768,0.0004489975,0.005761012,0.0001093814,0.00002092482,0.000008625656,0.00009926085,0.000009660111,0.0001653494],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001995477,"threshold_uncertainty_score":0.004767776,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02513905818675858,"score_gpt":0.2678315495030547,"score_spread":0.2426924913162961,"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."}}