{"id":"W4319321633","doi":"10.3389/fgene.2023.1113086","title":"Rare diseases of epigenetic origin: Challenges and opportunities","year":2023,"lang":"en","type":"review","venue":"Frontiers in Genetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Canadian Institutes of Health Research; BC Children's Hospital; Children's Hospital Foundation","keywords":"Epigenetics; DNA methylation; Biology; Computational biology; Genetics; Evolutionary biology; Medicine; Bioinformatics; 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":[0.0002036366,0.0003954318,0.001055509,0.0003072659,0.00003291923,0.00001621679,0.0002965325,0.000472537,0.000002664272],"category_scores_gemma":[0.00006968376,0.000387122,0.0002147298,0.0001186375,0.000191218,0.000001981852,0.0002256739,0.0001341075,0.000001821046],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002199138,"about_ca_system_score_gemma":0.0002564563,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000222147,"about_ca_topic_score_gemma":0.00001281573,"domain_scores_codex":[0.9981034,0.0002059206,0.0006544173,0.000541824,0.0001900478,0.0003043548],"domain_scores_gemma":[0.9989028,0.00003821823,0.0003133598,0.0005474375,0.0000682402,0.0001299711],"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":[0.000006692633,0.00003357516,0.000269638,0.008144777,0.0001239753,0.00001007472,0.00004816601,0.00001574185,0.00001322227,0.00003696387,0.0004242436,0.9908729],"study_design_scores_gemma":[0.0001943445,0.0001973186,0.0002420725,0.001834802,0.0003594672,0.000002499659,0.0001266013,0.00001675851,0.0001709584,0.0006740029,0.995727,0.0004541773],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0003892281,0.9977041,0.000351241,0.00001467955,0.0006472895,0.0004777605,0.0002153614,0.00001260835,0.0001876789],"genre_scores_gemma":[0.0001130208,0.9972467,0.001316163,0.000006748428,0.0002304414,0.00007748243,0.0004511418,0.0001033636,0.0004549518],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9953027,"threshold_uncertainty_score":0.9998581,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1171135660405469,"score_gpt":0.3313378165551105,"score_spread":0.2142242505145637,"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."}}