{"id":"W4308616307","doi":"10.1093/nar/gkac1010","title":"The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource","year":2022,"lang":"en","type":"article","venue":"Nucleic Acids Research","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1733,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; Chief Scientist Office, Scottish Government Health and Social Care Directorate; National Institutes of Health; Department of Health and Social Care; Health and Social Care Research and Development Division; National Institute for Health and Care Research; European Bioinformatics Institute; Medical Research Council; Biogen; Celgene; Scottish Government; British Heart Foundation; National Human Genome Research Institute; Wellcome Trust; Public Health Agency; Engineering and Physical Sciences Research Council; European Molecular Biology Laboratory; NIHR Cambridge Biomedical Research Centre; Economic and Social Research Council; Sanofi","keywords":"Genome-wide association study; Interoperability; Biology; Population; Metadata; Data science; Computational biology; Computer science; World Wide Web; Genetics; Medicine; Single-nucleotide polymorphism; 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":[0.01023779,0.001911022,0.004340195,0.02187413,0.001957089,0.00626861,0.005991852,0.002957392,0.2251069],"category_scores_gemma":[0.04150703,0.002563285,0.001680203,0.03146456,0.0009606521,0.003962541,0.005489183,0.003124305,0.1347774],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001860943,"about_ca_system_score_gemma":0.01270697,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01630841,"about_ca_topic_score_gemma":0.01946663,"domain_scores_codex":[0.9952495,0.0008275908,0.001711444,0.0008950464,0.001004823,0.0003116385],"domain_scores_gemma":[0.96869,0.008587499,0.003507131,0.007710065,0.007951912,0.003553316],"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":[0.0001817245,0.00004833966,0.002037941,0.002126167,0.0001187695,0.000169892,0.0001190381,0.0002058779,0.0008451653,0.002663671,0.9588476,0.03263579],"study_design_scores_gemma":[0.000386745,0.00003078817,0.00860511,0.001002658,0.0002090617,0.0004635323,0.0001080209,0.0003063247,0.0007203496,0.008318113,0.9797518,0.00009750592],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.0005977721,0.001416304,0.007853289,0.0009456307,0.0004978278,0.0004150683,0.9747235,0.004194591,0.009355867],"genre_scores_gemma":[0.001848234,0.001769852,0.01975851,0.0008794293,0.000290326,0.0011077,0.9682082,0.002004703,0.004132967],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.2251069,"threshold_uncertainty_score":0.7530577,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02876071940963539,"score_gpt":0.3282563603218645,"score_spread":0.2994956409122291,"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."}}