{"id":"W4210442103","doi":"10.3390/ijms23031815","title":"Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome","year":2022,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Ministero della Salute","keywords":"DNA methylation; Genome; Biology; Genetics; Methylation; Computational biology; Signature (topology); DNA; Gene; Gene expression","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001404157,0.00007620748,0.0001458183,0.0001193664,0.00008251538,0.00002078336,0.0006292801,0.00005776451,0.00007005187],"category_scores_gemma":[0.0003004928,0.00006746633,0.0002960279,0.0001097458,0.0001610944,0.000008785882,0.0001616715,0.000118807,2.699586e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001591331,"about_ca_system_score_gemma":0.0003500331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003294412,"about_ca_topic_score_gemma":0.000001470194,"domain_scores_codex":[0.9986225,0.0001517657,0.0005073782,0.0001862927,0.0004302963,0.0001017097],"domain_scores_gemma":[0.9988753,0.00005759303,0.0004957446,0.00009880526,0.0004127111,0.00005988944],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006554587,0.0006619655,0.01496369,0.00001832733,0.0009033844,0.0002501403,0.0001380196,0.01465849,0.9573784,0.001008838,0.0008461611,0.008517061],"study_design_scores_gemma":[0.009671731,0.01440597,0.2566938,0.0001367611,0.000526427,0.003663115,0.002518172,0.005063469,0.540141,0.04734604,0.1182752,0.001558294],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902654,0.00186114,0.006404283,0.0004779709,0.0006236759,0.0001112346,0.00008369815,0.000001631869,0.0001709583],"genre_scores_gemma":[0.9980506,0.00008026108,0.001442795,0.0002768483,0.00004321004,0.000004760712,0.00004779166,0.000006321953,0.00004742884],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4172375,"threshold_uncertainty_score":0.2751197,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01624226153265572,"score_gpt":0.3154171773069957,"score_spread":0.29917491577434,"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."}}