{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001664528,0.0003297061,0.0002535653,0.0006202509,0.0001418464,0.0002382133,0.0001602349,0.0002179401,0.0007220347],"category_scores_gemma":[0.0003127348,0.0001341842,0.0003043935,0.0003273895,0.0001151496,0.00006670653,0.0002387301,0.0002401137,0.0001475883],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001938631,"about_ca_system_score_gemma":0.000218474,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002348715,"about_ca_topic_score_gemma":0.00525621,"domain_scores_codex":[0.9998524,0.00001446654,0.000009912953,0.00007264534,0.00003283951,0.00001760181],"domain_scores_gemma":[0.9999247,0.00002006374,0.0000182211,0.00001143393,0.00001538608,0.00001017668],"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":[0.0003320267,0.0000221121,0.02527674,0.0002121547,0.0002152615,0.0005840394,0.0002233735,0.0006223352,0.9444622,0.0003067572,0.000567216,0.02717578],"study_design_scores_gemma":[0.00006673802,0.0003570098,0.5859196,0.00008001401,0.0006147925,0.005455577,0.000258421,0.007263669,0.3757519,0.001247749,0.02294486,0.00003971311],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9706726,0.002672768,0.01678613,0.0001272844,0.00002330174,0.0000396326,0.00857152,0.0001713232,0.0009355556],"genre_scores_gemma":[0.964481,0.001802632,0.01973924,0.0001826164,0.00001314657,0.00007520042,0.0116794,0.0001024118,0.001924289],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002348715,"threshold_uncertainty_score":0.004670084,"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."}}