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Nicolas Bertin , Joanna Tan , Zhihui Li , Mar Gonzàlez-Porta , Ramesh Rajaby , Rodrigo Jiménez , Weng Khong Lim , Ye An Tan , 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 Chin , Sonia Dávila , neer Gilmore , Ching‐Yu Cheng , John C. Chambers , E Shyong Tai , Jianjun Liu , Xueling Sim , Wing‐Kin Sung , Shyam Prabhakar , Patrick Tan , Jin Fang Chai , Jimmy Lee , Eng Sing Lee , Joanne Ngeow , Paul Elliott , Elio Ríboli , Hong Kiat Ng , Theresia Mina , Darwin Tay , Nilanjana Sadhu , Pritesh Rajesh Jain , Dorrain Yanwen Low , Xiaoyan Wang , Khung Keong Yeo , Stuart A. Cook , Chee Jian Pua , Chengxi Yang , Tien Yin Wong , Charumathi Sabanayagam , Raghavan Lavanya , Tin Aung , Miao Ling Chee , Miao Ling Chee , Hengtong Li , Rob M. van Dam , Yik‐Ying Teo , Chia Wei Lim , Pi Kuang Tsai , Wen Jie Chew , Wey Ching Sim , Li-xian Grace Toh , Johan G. Eriksson , Peter D. Gluckman , Yung Seng Lee , Fabian Yap , Kok Hian Tan ·

YOU? · · 2023 · Open Access · · DOI: https://doi.org/10.21203/rs.3.rs-3376868/v1

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 152,655 SVs from 8,392 Singaporeans of East Asian, Southeast Asian and South Asian ancestries, of which ~75% (113,446 SVs) are novel. We show that Asian populations can be stratified by their global SV patterns and identified 82,003 novel SVs that are specific to Asian populations. 38% of these novel SVs are restricted to one of the three major ancestry groups studied (Indian, Chinese or Malay). We uncovered SVs affecting ACMG-defined 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 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.

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Variation (astronomy) Geography Evolutionary biology Biology Physics Astrophysics

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Type: preprint
Language: en
Landing Page: https://doi.org/10.21203/rs.3.rs-3376868/v1
PDF: https://www.researchsquare.com/article/rs-3376868/latest.pdf
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Cited By: 1
References: 66
Related Works: 10
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DOI: https://doi.org/10.21203/rs.3.rs-3376868/v1

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Title: A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes

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Type: preprint

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Language: en

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Publication year: 2023

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Publication date: 2023-10-03

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Authors: Nicolas Bertin, Joanna Tan, Zhihui Li, Mar Gonzàlez-Porta, Ramesh Rajaby, Rodrigo Jiménez, Weng Khong Lim, Ye An Tan, 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 Chin, Sonia Dávila, neer Gilmore, Ching‐Yu Cheng, John C. Chambers, E Shyong Tai, Jianjun Liu, Xueling Sim, Wing‐Kin Sung, Shyam Prabhakar, Patrick Tan, Jin Fang Chai, Jimmy Lee, Eng Sing Lee, Joanne Ngeow, Paul Elliott, Elio Ríboli, Hong Kiat Ng, Theresia Mina, Darwin Tay, Nilanjana Sadhu, Pritesh Rajesh Jain, Dorrain Yanwen Low, Xiaoyan Wang, Khung Keong Yeo, Stuart A. Cook, Chee Jian Pua, Chengxi Yang, Tien Yin Wong, Charumathi Sabanayagam, Raghavan Lavanya, Tin Aung, Miao Ling Chee, Miao Ling Chee, Hengtong Li, Rob M. van Dam, Yik‐Ying Teo, Chia Wei Lim, Pi Kuang Tsai, Wen Jie Chew, Wey Ching Sim, Li-xian Grace Toh, Johan G. Eriksson, Peter D. Gluckman, Yung Seng Lee, Fabian Yap, Kok Hian Tan

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Landing page: https://doi.org/10.21203/rs.3.rs-3376868/v1

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Concepts: Variation (astronomy), Geography, Evolutionary biology, Biology, Physics, Astrophysics

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Cited by: 1

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