{"id":"W2980454433","doi":"10.1002/ajmg.c.31745","title":"Epigenetic signatures in overgrowth syndromes: Translational opportunities","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Amgen (Canada); Hospital for Sick Children; Toronto Rehabilitation Institute; University of Toronto","funders":"Canadian Institutes of Health Research","keywords":"Epigenetics; dNaM; Biology; Epigenomics; DNA methylation; Chromatin; Histone; Epigenesis; Computational biology; Genetics; Genome; Gene; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.002992461,0.000396234,0.0007867301,0.0004178351,0.00003916497,0.00003327559,0.001135143,0.0006388761,0.0008615667],"category_scores_gemma":[0.0008067916,0.0003752174,0.0002370367,0.0005221465,0.0007207142,0.000008869734,0.0002034184,0.0009545066,0.000009400513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000505326,"about_ca_system_score_gemma":0.001424705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001773941,"about_ca_topic_score_gemma":0.00009176684,"domain_scores_codex":[0.9933999,0.0005516946,0.001678543,0.0005221171,0.003166008,0.0006817439],"domain_scores_gemma":[0.9975268,0.0003346647,0.0005707,0.0004717964,0.000224258,0.0008717831],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008132644,0.001447117,0.3020301,0.000208745,0.0003486958,0.001352284,0.001170006,0.0212842,0.02108308,0.0002590182,0.002013981,0.6479895],"study_design_scores_gemma":[0.02475864,0.03411553,0.2513645,0.007950521,0.0004434523,0.001705485,0.008740677,0.04223926,0.08442996,0.005502271,0.5329353,0.005814457],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9609939,0.03411353,0.001510618,0.0016759,0.0008194586,0.0002415254,0.00001376766,0.000005496533,0.0006257665],"genre_scores_gemma":[0.9122592,0.08400108,0.002117183,0.0008821115,0.0004807773,0.000009972192,0.00004108723,0.00006052134,0.0001480189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.642175,"threshold_uncertainty_score":0.99987,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01796715436131984,"score_gpt":0.2994033715082275,"score_spread":0.2814362171469077,"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."}}