{"id":"W4387408736","doi":"10.1186/s40246-023-00540-1","title":"Epigenomic signature of major congenital heart defects in newborns with Down syndrome","year":2023,"lang":"en","type":"article","venue":"Human Genomics","topic":"Down syndrome and intellectual disability research","field":"Medicine","cited_by":15,"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; National Institute of Environmental Health Sciences; Alex's Lemonade Stand Foundation for Childhood Cancer; Canadian Institutes of Health Research; University of California, Davis; National Institutes of Health; California Department of Public Health","keywords":"Epigenomics; Human genetics; Medicine; Signature (topology); Bioinformatics; Biology; Genetics; DNA methylation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001490809,0.0001499582,0.0002151659,0.000767049,0.0001044495,0.0001985759,0.0001286633,0.0001419339,0.001399012],"category_scores_gemma":[0.0005258035,0.00008509458,0.0001419585,0.000451053,0.0001116593,0.00006649688,0.0002458617,0.0001232477,0.0001273245],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001277681,"about_ca_system_score_gemma":0.0001014053,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001627118,"about_ca_topic_score_gemma":0.001998795,"domain_scores_codex":[0.9998538,0.00001929338,0.00001138571,0.00006493316,0.00002679566,0.00002368677],"domain_scores_gemma":[0.9996939,0.00008258416,0.0001106819,0.00001926966,0.00003892293,0.00005461823],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006341281,0.00001287269,0.8306941,0.00008287442,0.0001192679,0.0004553612,0.0002061467,0.0001395866,0.1573194,0.00007436953,0.0002505416,0.01001127],"study_design_scores_gemma":[0.000002286868,0.00004694078,0.9948004,0.000004295179,0.00003115791,0.000727967,0.0000587514,0.0001235839,0.003844584,0.00002498187,0.0003328621,0.000002227767],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997508,0.0003506294,0.0003825272,0.00001595711,0.000002873092,0.000004166156,0.001429629,0.0000101509,0.0002961119],"genre_scores_gemma":[0.9971452,0.0002315034,0.000605971,0.00002756268,0.000004486004,0.00001270791,0.00168257,0.00000880983,0.0002811672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001627118,"threshold_uncertainty_score":0.004680157,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03303479907389073,"score_gpt":0.3018112215497136,"score_spread":0.2687764224758228,"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."}}