{"id":"W4403877028","doi":"10.54195/9789493296831","title":"Clinical epigenetics of Mendelian neurodevelopmental disorders","year":2024,"lang":"en","type":"book","venue":"Radboud University Press eBooks","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Manchester Biomedical Research Centre; Medical Research Council; Cotton Research and Development Corporation; Silicon Valley Community Foundation; European Commission; Ontario Genomics Institute; Deutsche Forschungsgemeinschaft; Government of Canada; National Institute for Health and Care Research; Ontario Genomics; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Comunidad de Madrid; Genome Canada; Manton Center for Orphan Disease Research, Boston Children's Hospital; ZonMw; Simons Foundation Autism Research Initiative; Eesti Teadusagentuur; Autism Speaks","keywords":"Epigenetics; Mendelian inheritance; Neuroscience; Medicine; Biology; Genetics; Gene","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":[0.0001282818,0.0004232618,0.0004045465,0.0001328295,0.00008514789,0.00002756943,0.0006108812,0.0005462815,0.000008496918],"category_scores_gemma":[0.00001128288,0.0005004578,0.0003414746,0.00002336739,0.0003764471,0.000002027066,0.0008260065,0.0003717988,0.000009351857],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004453529,"about_ca_system_score_gemma":0.0006329396,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002302245,"about_ca_topic_score_gemma":0.00003282763,"domain_scores_codex":[0.9980256,0.0000949756,0.0004488392,0.0008196424,0.0002863301,0.0003245877],"domain_scores_gemma":[0.9989996,0.00002060146,0.0002194709,0.0005170526,0.0000748248,0.0001684756],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001213028,0.0007868905,0.0009148343,0.002088444,0.004585814,0.0003051291,0.0007496995,0.000628281,0.04027823,0.03655795,0.8230021,0.08888961],"study_design_scores_gemma":[0.0005414677,0.0002809422,0.0005636404,0.00006892886,0.0001626002,0.000004759896,0.00004077914,0.00002990771,0.001268622,0.0001357918,0.9963949,0.0005076747],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.01397754,0.001903345,0.0002126201,0.00002541513,0.001416657,0.0006427373,0.0004780582,0.000046335,0.9812973],"genre_scores_gemma":[0.01496997,0.006260893,0.0005566433,0.00006865161,0.00007343644,0.000001686259,0.0004187663,0.0001088133,0.9775411],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.1733928,"threshold_uncertainty_score":0.9997447,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01721299333807899,"score_gpt":0.2381490114475181,"score_spread":0.2209360181094391,"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."}}