Article
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation.
Nature communications - 11 Nov 2021
Wu Zhikun, Jiang Zehang, Li Tong, Xie Chuanbo, Zhao Liansheng, Yang Jiaqi, Ouyang Shuai, Liu Yizhi, Li Tao, Xie Zhi
Abstract excerpt
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...
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