| Autor: |
Joanna Hui Juan Tan, Zhihui Li, Mar Gonzalez Porta, Ramesh Rajaby, Weng Khong Lim, Ye An Tan, Rodrigo Toro Jimenez, Renyi Teo, Maxime Hebrard, Jack Ling Ow, Shimin Ang, Justin Jeyakani, Yap Seng Chong, Tock Han Lim, Liuh Ling Goh, Yih Chung Tham, Khai Pang Leong, Calvin Woon Loong Chin, SG10K_Health Consortium, Sonia Davila, Neerja Karnani, Ching-Yu Cheng, John Chambers, E. Shyong Tai, Jianjun Liu, Xueling Sim, Wing Kin Sung, Shyam Prabhakar, Patrick Tan, Nicolas Bertin |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2041-1723 |
| DOI: |
10.1038/s41467-024-53620-8 |
| Popis: |
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. Lastly, by identifying SVs in linkage disequilibrium with single-nucleotide variants, we demonstrate the utility of our SV catalogue in the fine-mapping of Asian GWAS variants and identification of potential causative variants. These results augment our knowledge of structural variation across human populations, thereby reducing current ancestry biases in global references of genetic variation afflicting equity, diversity and inclusion in genetic research. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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