{"id":"W2173045156","doi":"10.1186/s13148-015-0143-8","title":"Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci","year":2015,"lang":"en","type":"review","venue":"Clinical Epigenetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":214,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Assistance publique-Hôpitaux de Paris; Bundesministerium für Bildung und Forschung; Seconda Università degli Studi di Napoli; Institute of Genetics; Institut National de la Santé et de la Recherche Médicale; European Cooperation in Science and Technology; Instituto de Salud Carlos III; National Institute for Health and Care Research","keywords":"Genomic imprinting; Epigenetics; Human genetics; Imprinting (psychology); Biology; Genetics; DNA methylation; Gene; Molecular genetics; Disease; Bioinformatics; Computational biology; Medicine; Gene expression; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001146428,0.0006938865,0.002240816,0.0001399185,0.0000530878,0.00002714893,0.0007058678,0.0008135786,0.00001329735],"category_scores_gemma":[0.0006983491,0.0006022693,0.0009037301,0.0002710708,0.0003290682,0.000003526523,0.001127694,0.0005071817,0.000003102396],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002289041,"about_ca_system_score_gemma":0.0002895604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008414442,"about_ca_topic_score_gemma":0.0002297124,"domain_scores_codex":[0.9958051,0.0004347285,0.001753109,0.0009996017,0.0003908279,0.0006166087],"domain_scores_gemma":[0.9964565,0.0002211678,0.001771437,0.001057818,0.0002484089,0.0002446872],"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":[0.00001304242,0.0002485565,0.008270466,0.005864956,0.0009289524,0.000002170148,0.00004137779,0.00002483938,0.0009942465,0.0000130829,0.00000494072,0.9835933],"study_design_scores_gemma":[0.008231008,0.02002874,0.0125049,0.02657042,0.00873314,0.0001985285,0.001937889,0.0003726801,0.005202518,0.0004225531,0.9088653,0.006932266],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.1639068,0.8238315,0.01039077,0.00001078004,0.0003459067,0.001142936,0.00008258499,0.00002040053,0.0002683313],"genre_scores_gemma":[0.1308015,0.8661162,0.002437118,0.00001680205,0.0002047477,0.00004352836,0.0001896955,0.0001604366,0.0000299373],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9766611,"threshold_uncertainty_score":0.9996428,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03780435557465298,"score_gpt":0.345246924430604,"score_spread":0.307442568855951,"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."}}