Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation

Zhikun Wu, Zehang Jiang, Tong Li, Chuanbo Xie, Liansheng Zhao, Jiaqi Yang, Shuai Ouyang, Yizhi Liu, Tao Li () and Zhi Xie ()
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Zhikun Wu: Zhongshan Ophthalmic Center, Sun Yat-sen University
Zehang Jiang: Zhongshan Ophthalmic Center, Sun Yat-sen University
Tong Li: Zhongshan Ophthalmic Center, Sun Yat-sen University
Chuanbo Xie: Sun Yat-sen University Cancer Center, Sun Yat-sen University
Liansheng Zhao: Mental Health Center and Psychiatric Laboratory, the State Key Laboratory of Biotherapy, West China Hospital of Sichuan University
Jiaqi Yang: Zhongshan Ophthalmic Center, Sun Yat-sen University
Shuai Ouyang: Zhongshan Ophthalmic Center, Sun Yat-sen University
Yizhi Liu: Zhongshan Ophthalmic Center, Sun Yat-sen University
Tao Li: Mental Health Center and Psychiatric Laboratory, the State Key Laboratory of Biotherapy, West China Hospital of Sichuan University
Zhi Xie: Zhongshan Ophthalmic Center, Sun Yat-sen University

Nature Communications, 2021, vol. 12, issue 1, 1-12

Abstract: Abstract A complete characterization of genetic variation is a fundamental goal of human genome research. Long-read sequencing has improved the sensitivity of structural variant discovery. Here, we conduct the long-read sequencing-based structural variant analysis for 405 unrelated Chinese individuals, with 68 phenotypic and clinical measurements. We discover a landscape of 132,312 nonredundant structural variants, of which 45.2% are novel. The identified structural variants are of high-quality, with an estimated false discovery rate of 3.2%. The concatenated length of all the structural variants is approximately 13.2% of the human reference genome. We annotate 1,929 loss-of-function structural variants affecting the coding sequence of 1,681 genes. We discover rare deletions in HBA1/HBA2/HBB associated with anemia. Furthermore, we identify structural variants related to immunity which differentiate the northern and southern Chinese populations. Our study describes the landscape of structural variants in the Chinese population and their contribution to phenotypes and disease.

Date: 2021
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DOI: 10.1038/s41467-021-26856-x

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