{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Singhal P"],"funding":["NIA NIH HHS","NHGRI NIH HHS","NLM NIH HHS"],"pagination":["575-591"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10119154"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["110(4)"],"pubmed_abstract":["Leveraging linkage disequilibrium (LD) patterns as representative of population substructure enables the discovery of additive association signals in genome-wide association studies (GWASs). Standard GWASs are well-powered to interrogate additive models; however, new approaches are required for invesigating other modes of inheritance such as dominance and epistasis. Epistasis, or non-additive interaction between genes, exists across the genome but often goes undetected because of a lack of statistical power. Furthermore, the adoption of LD pruning as customary in standard GWASs excludes detection of sites that are in LD but might underlie the genetic architecture of complex traits. We hypothesize that uncovering long-range interactions between loci with strong LD due to epistatic selection"],"journal":["American journal of human genetics"],"pubmed_title":["Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets."],"pmcid":["PMC10119154"],"funding_grant_id":["R01 LM010098","F31 AG069441","U01 AG066833","U01 HG006379","R01 HG010067","U01 HG008680","U01 HG008672","U01 HG008684","U01 HG008673","U01 HG008685","U01 HG008664","U01 HG008676","U01 HG008666","U01 HG008657","U01 HG008679","U01 HG008701"],"pubmed_authors":["Frase A","Verma SS","Dikilitas O","Sleiman PMA","Pendergrass R","Schaid DJ","Lucas A","Ritchie MD","Dudek SM","Veturi Y","Weng C","Moore JH","Hakonarson H","Williams SM","Singhal P","van Steen K","Fasel D","Kullo IJ","Schrodi SJ"],"additional_accession":[]},"is_claimable":false,"name":"Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets.","description":"Leveraging linkage disequilibrium (LD) patterns as representative of population substructure enables the discovery of additive association signals in genome-wide association studies (GWASs). Standard GWASs are well-powered to interrogate additive models; however, new approaches are required for invesigating other modes of inheritance such as dominance and epistasis. Epistasis, or non-additive interaction between genes, exists across the genome but often goes undetected because of a lack of statistical power. Furthermore, the adoption of LD pruning as customary in standard GWASs excludes detection of sites that are in LD but might underlie the genetic architecture of complex traits. We hypothesize that uncovering long-range interactions between loci with strong LD due to epistatic selection","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Apr","modification":"2026-05-29T07:13:18.931Z","creation":"2024-11-14T18:03:44.805Z"},"accession":"S-EPMC10119154","cross_references":{"pubmed":["37028392"],"doi":["10.1016/j.ajhg.2023.03.007"]}}