{"id":"W2346051542","doi":"10.7554/elife.10557","title":"Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures","year":2016,"lang":"en","type":"article","venue":"eLife","topic":"Genetic Mapping and Diversity in Plants and Animals","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Institutes of Health; Fondation Leducq; National Institute of General Medical Sciences; American Heart Association","keywords":"Epigenomics; Biology; Genome-wide association study; Genetics; Computational biology; Genome; Genetic association; Heritability; Locus (genetics); Human genome; Evolutionary biology; Gene; Single-nucleotide polymorphism; Genotype; DNA methylation; 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":[0.0001994905,0.00007138301,0.00009625268,0.00002652977,0.0000562858,0.00001920277,0.00005989956,0.00007027414,0.000005225575],"category_scores_gemma":[0.00009414607,0.00005421051,0.00003085372,0.00002336127,0.00001804325,0.000005332627,0.00006481756,0.00002238802,0.000001955174],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000145286,"about_ca_system_score_gemma":0.00002383465,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001668755,"about_ca_topic_score_gemma":0.000005850913,"domain_scores_codex":[0.99946,0.00003224637,0.0001201,0.0001649031,0.0001156247,0.0001071403],"domain_scores_gemma":[0.9996942,0.00002328139,0.0001033067,0.00009923653,0.000052551,0.00002739267],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002099798,0.00003591195,0.3609884,0.000004600715,0.00004046414,5.162966e-7,0.00004911165,0.0000497931,0.638415,0.000003975308,0.0003234812,0.00006772995],"study_design_scores_gemma":[0.0007369008,0.0002686236,0.3289748,0.00001449836,0.00005127363,6.157042e-7,0.0002459193,0.00001029652,0.6679301,0.00002963366,0.001572609,0.0001647563],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987552,0.0003435124,0.0005575608,0.00005476612,0.00005165266,0.0001027708,0.00004292574,0.00000372517,0.00008795418],"genre_scores_gemma":[0.9992092,0.0001750986,0.00005655619,0.00007282534,0.00008613199,9.968433e-7,0.00002181962,0.000004934058,0.000372479],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03201362,"threshold_uncertainty_score":0.221064,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01335765891823138,"score_gpt":0.2293650008800817,"score_spread":0.2160073419618503,"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."}}