{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tan JHJ"],"funding":["MOH | National Medical Research Council","Agency for Science, Technology and Research (A*STAR)","MOH | National Medical Research Council (NMRC)","Agency for Science, Technology and Research"],"pagination":["9507"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11535549"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["Structural variants (SVs) are significant contributors to inter-individual genetic variation associated with traits and diseases. Current SV studies using whole-genome sequencing (WGS) have a largely Eurocentric composition, with little known about SV diversity in other ancestries, particularly from Asia. Here, we present a WGS catalogue of 73,035 SVs from 8392 Singaporeans of East Asian, Southeast Asian and South Asian ancestries, of which ~65% (47,770 SVs) are novel. We show that Asian populations can be stratified by their global SV patterns and identified 42,239 novel SVs that are specific to Asian populations. 52% of these novel SVs are restricted to one of the three major ancestry groups studied (Indian, Chinese or Malay). We uncovered SVs affecting major clinically actionable loci. "],"journal":["Nature communications"],"pubmed_title":["A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes."],"pmcid":["PMC11535549"],"funding_grant_id":["NMRC/CG12AUG17","NMRC/CIRG/1417/2015","IAF-PP: H18/01/a0/016","NMRC/TCR/012-NUHS/2014","IAF-PP: H17/01/a0/007","11/1/21/19/678","MOH- 000588","NMRC/CIRG/1488/2018","NMRC/CG/M006/2017_NHCS","NMRC/STaR/0028/2017","NMRC/TCR/004-NUS/2008","03/1/27/18/216","IAF-PP H17/01/a0/005","NMRC/STaR/ 0026/2015","0838/2004","NMRC/STaR/0011/2012","NMRC/OFLCG/004/2018","NMRC/CGAug16M012","05/1/21/19/42"],"pubmed_authors":["Tan JHJ","Mina T","Bertin N","Chong YS","Eillot P","Pua CJ","Tai ES","Lim TH","Aung T","Lim CW","Lee ES","Chai JF","Ngeow J","Porta MG","Sabanayagam C","Davila S","Wang X","Teo YY","Van Dam RM","Leong KP","Lee YS","Li H","Jimenez RT","Ang S","Yang C","Lim WK","Eriksson JG","Cheng CY","Wong TY","Li Z","Goh LL","Low D","Karnani N","Tan P","Tan KH","Chambers J","Liu J","Lee J","Rajaby R","Chee ML","Sim WC","Sung WK","Ng HK","Ow JL","Jeyakani J","Riboli E","Chin CWL","Chew WJ","Tham YC","Tan YA","SG10K_Health Consortium","Jain PR","Sadhu N","Sim X","Toh LG","Raghavan L","Gluckman PD","Tsai PK","Yeo KK","Tay D","Yap F","Hebrard M","Prabhakar S","Cook SA","Teo R"],"additional_accession":[]},"is_claimable":false,"name":"A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.","description":"Structural variants (SVs) are significant contributors to inter-individual genetic variation associated with traits and diseases. Current SV studies using whole-genome sequencing (WGS) have a largely Eurocentric composition, with little known about SV diversity in other ancestries, particularly from Asia. Here, we present a WGS catalogue of 73,035 SVs from 8392 Singaporeans of East Asian, Southeast Asian and South Asian ancestries, of which ~65% (47,770 SVs) are novel. We show that Asian populations can be stratified by their global SV patterns and identified 42,239 novel SVs that are specific to Asian populations. 52% of these novel SVs are restricted to one of the three major ancestry groups studied (Indian, Chinese or Malay). We uncovered SVs affecting major clinically actionable loci. ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-03T00:23:31.914Z","creation":"2025-04-04T23:31:54.378Z"},"accession":"S-EPMC11535549","cross_references":{"pubmed":["39496583"],"doi":["10.1038/s41467-024-53620-8"]}}