{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hawkes G"],"funding":["Innovative Medicines Initiative","NIEHS NIH HHS","NHLBI NIH HHS","Medical Research Council","NCI NIH HHS","NNF Center for Basic Metabolic Research","Innovative Medicines Initiative (IMI)","Wellcome Trust","Novo Nordisk Fonden","Biotechnology and Biological Sciences Research Council"],"pagination":["8549"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11450065"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare ( < 0.1% minor-allele-frequency) single-variant and aggregate testing of non-coding variants in regulatory regions based on proximal-regulatory, intergenic-regulatory and deep-intronic annotation. We observed 29 independent variants associated with height at P <  6×10-10 after conditioning on previously reported variants, with effect sizes ranging from -7cm to +4.7 cm. We also identified and replicated non-coding aggregate-based "],"journal":["Nature communications"],"pubmed_title":["Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height."],"pmcid":["PMC11450065"],"funding_grant_id":["NNF20OC0059313","CBMR - 008","R35 CA197449","R01 HL163560","MR/M008924/1","BB/K003240/1","P30 ES010126","R01 HL105756","WT101650MA","875534"],"pubmed_authors":["Psaty BM","Kardia SLR","Chami N","Darbar D","Guo X","Locke JM","Boerwinkle E","Lin X","Manning A","Mandla R","Chung MK","Murray A","Curran JE","Wood AR","Wright CF","Frayling TM","Telen MJ","Patel K","He J","Ellinor PT","Albert CM","Justice AE","Redline S","Li X","Li Z","Shoemaker MB","Liu CT","Brody JA","Hawkes G","Hwu CM","Fornage M","Kalyani RR","Yanek LR","Ashley-Koch AE","Gordeuk VR","Murabito JM","Beaumont RN","Naseri T","Silverman EK","Loos RJF","Owens N","Viali S","Minster RL","Weiss ST","Arnett DK","Lubitz SA","Zhou H","Kaplan R","Ashrani AA","Palmer ND","Weedon MN","Kooperberg C","NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium","Barnes KC","Chen YI","Carson AP","Mitchell BD","North KE"],"additional_accession":[]},"is_claimable":false,"name":"Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.","description":"The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare ( < 0.1% minor-allele-frequency) single-variant and aggregate testing of non-coding variants in regulatory regions based on proximal-regulatory, intergenic-regulatory and deep-intronic annotation. We observed 29 independent variants associated with height at P <  6×10-10 after conditioning on previously reported variants, with effect sizes ranging from -7cm to +4.7 cm. We also identified and replicated non-coding aggregate-based ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-04-30T00:08:23.657Z","creation":"2025-04-06T12:49:50.79Z"},"accession":"S-EPMC11450065","cross_references":{"pubmed":["39362880"],"doi":["10.1038/s41467-024-52579-w"]}}