{"id":"W2950458747","doi":"10.1080/15592294.2019.1609867","title":"Whole genome bisulfite sequencing of Down syndrome brain reveals regional DNA hypermethylation and novel disorder insights","year":2019,"lang":"en","type":"article","venue":"Epigenetics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Genome Center, University of California, Davis; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Division of Materials Research; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institute of Environmental Health Sciences; Canadian Institutes of Health Research; National Institutes of Health; Harvard University","keywords":"Biology; Differentially methylated regions; DNA methylation; Epigenetics; CpG site; Genetics; Bisulfite sequencing; Methylation; Genome; Illumina Methylation Assay; Gene; Gene expression","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":[],"consensus_categories":[],"category_scores_codex":[0.0002695678,0.0002007252,0.0002481019,0.0001071429,0.0000679709,0.00002273882,0.0001475569,0.0002278949,0.00002099312],"category_scores_gemma":[0.00008169183,0.000200713,0.00007780783,0.0001600949,0.00009378976,0.000008024704,0.0001164021,0.00008941704,0.00001304254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002090486,"about_ca_system_score_gemma":0.00007603525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000199899,"about_ca_topic_score_gemma":0.00002435799,"domain_scores_codex":[0.9986308,0.00007102111,0.0004027508,0.0004360457,0.0002263831,0.0002329882],"domain_scores_gemma":[0.9990578,0.00005331022,0.0002111551,0.0004360984,0.00014545,0.00009621037],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001711841,0.0000351227,0.01278591,0.00004794301,0.00003623235,8.910835e-7,0.0001486605,0.001635329,0.98448,0.0001896302,0.00001416595,0.0006089685],"study_design_scores_gemma":[0.002163897,0.001406074,0.496162,0.00009567357,0.00007044466,0.00003300664,0.0002559821,0.001178466,0.4184414,0.003145052,0.07611322,0.0009348073],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865382,0.005798735,0.006601796,0.0001748645,0.0001157871,0.000322658,0.00004515083,0.000009019755,0.0003937338],"genre_scores_gemma":[0.9946508,0.0007120269,0.003031211,0.0001378626,0.00008519107,0.000008540222,0.0003050902,0.00003750642,0.001031813],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5660386,"threshold_uncertainty_score":0.8184841,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01370166935838668,"score_gpt":0.2373003819193993,"score_spread":0.2235987125610127,"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."}}