{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001598957,0.0007408836,0.001442278,0.001914123,0.0003406443,0.001207648,0.001148448,0.001670699,0.003160089],"category_scores_gemma":[0.002222896,0.0002583353,0.0006107081,0.001535372,0.001090457,0.001951437,0.001005494,0.002921087,0.001314414],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008636662,"about_ca_system_score_gemma":0.001886258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001118082,"about_ca_topic_score_gemma":0.002311558,"domain_scores_codex":[0.9995838,0.0001143483,0.00005614422,0.00006990927,0.0001403502,0.00003545053],"domain_scores_gemma":[0.9982268,0.001236908,0.0001040145,0.00003881732,0.0002886438,0.000104792],"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":[0.00005798416,0.00003210767,0.0002315751,0.0100914,0.00007547775,0.0003949385,0.00008594539,0.0003555673,0.0009930778,0.01031361,0.03700949,0.9403587],"study_design_scores_gemma":[0.00001335676,0.00005520518,0.000639739,0.003690482,0.00008441025,0.002533449,0.0001003963,0.0001230433,0.0003161832,0.00740347,0.9850168,0.0000235578],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00007200985,0.996876,0.0003113183,0.001466481,0.0004375908,0.000002577065,0.00001225337,0.00001088609,0.0008108126],"genre_scores_gemma":[0.0006305109,0.9972804,0.0003366202,0.0006633407,0.0006466824,0.000004767727,0.00002545914,0.000002745057,0.0004094448],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003160089,"threshold_uncertainty_score":0.01057154,"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."}}