biostudies-literatureTan JHJMOH | National Medical Research CouncilAgency for Science, Technology and Research (A*STAR)MOH | National Medical Research Council (NMRC)Agency for Science, Technology and Research9507https://www.ebi.ac.uk/biostudies/studies/S-EPMC11535549biostudies-literatureUnknown15(1)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. Nature communicationsA Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.PMC11535549NMRC/CG12AUG17NMRC/CIRG/1417/2015IAF-PP: H18/01/a0/016NMRC/TCR/012-NUHS/2014IAF-PP: H17/01/a0/00711/1/21/19/678MOH- 000588NMRC/CIRG/1488/2018NMRC/CG/M006/2017_NHCSNMRC/STaR/0028/2017NMRC/TCR/004-NUS/200803/1/27/18/216IAF-PP H17/01/a0/005NMRC/STaR/ 0026/20150838/2004NMRC/STaR/0011/2012NMRC/OFLCG/004/2018NMRC/CGAug16M01205/1/21/19/42Tan JHJMina TBertin NChong YSEillot PPua CJTai ESLim THAung TLim CWLee ESChai JFNgeow JPorta MGSabanayagam CDavila SWang XTeo YYVan Dam RMLeong KPLee YSLi HJimenez RTAng SYang CLim WKEriksson JGCheng CYWong TYLi ZGoh LLLow DKarnani NTan PTan KHChambers JLiu JLee JRajaby RChee MLSim WCSung WKNg HKOw JLJeyakani JRiboli EChin CWLChew WJTham YCTan YASG10K_Health ConsortiumJain PRSadhu NSim XToh LGRaghavan LGluckman PDTsai PKYeo KKTay DYap FHebrard MPrabhakar SCook SATeo RfalseA Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes.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. 2024-01-01T00:00:00Z2024 Nov2026-06-03T00:23:31.914Z2025-04-04T23:31:54.378ZS-EPMC115355493949658310.1038/s41467-024-53620-8