气候变化领域集成服务门户(CCPortal): Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation

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DOI	10.1038/s41467-021-26856-x
	Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation
	Wu Z.; Jiang Z.; Li T.; Xie C.; Zhao L.; Yang J.; Ouyang S.; Liu Y.; Li T.; Xie Z.
发表日期	2021
卷号	12 期号:1
英文摘要	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. © 2021, The Author(s).
语种	英语
scopus关键词	adaptation; anemia; genetic variation; genome; phenotype; glycosylated hemoglobin; adult; aged; female; genetic variation; genetics; genotype; human; human genome; loss of function mutation; male; middle aged; open reading frame; very elderly; young adult; Adult; Aged; Aged, 80 and over; Female; Genetic Variation; Genome, Human; Genotype; Glycated Hemoglobin A; Humans; Loss of Function Mutation; Male; Middle Aged; Open Reading Frames; Young Adult
来源期刊	Nature Communications
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/251549
作者单位	State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China; Sun Yat-sen University Cancer Center, Sun Yat-sen University, Guangzhou, China; Mental Health Center and Psychiatric Laboratory, the State Key Laboratory of Biotherapy, West China Hospital of Sichuan University, Chengdu, China; Guangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired Intelligence, Guangzhou, China
推荐引用方式 GB/T 7714	Wu Z.,Jiang Z.,Li T.,et al. Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation[J],2021,12(1).
APA	Wu Z..,Jiang Z..,Li T..,Xie C..,Zhao L..,...&Xie Z..(2021).Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation.Nature Communications,12(1).
MLA	Wu Z.,et al."Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation".Nature Communications 12.1(2021).