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Chinese consortium releases landmark study on genetic diversity in Nature

June 14, 2023
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The Chinese Pangenome Consortium (CPC), comprising 26 institutions including Xi'an Jiaotong University, Fudan University, and the Chinese Academy of Medical Sciences, published their Phase I research findings in the journal Nature on June 14. The study, titled A Pangenome Reference of 36 Chinese Populations, represents a significant milestone in the understanding of the genetic diversity of the Chinese population.

The research team collected 58 samples from 36 distinct populations in China and employed cutting-edge third-generation high-fidelity genome sequencing technology to perform deep sequencing on these samples. 

By integrating state-of-the-art haplotype genome assembly techniques, they successfully obtained 116 high-quality haplotype genomes. These genomes formed the foundation for constructing a comprehensive and refined reference pangenome of the Chinese population.

Through an in-depth analysis of population-specific structural variations within the Chinese pangenome, the researchers identified 223 variant hotspots associated with 807 protein-coding genes. 

Notably, these variations demonstrated strong correlations with prevalent traits observed in East Asian populations, such as nephrolithiasis, kidney stones, and thyroid enlargement. Moreover, the CPC also made significant discoveries regarding a higher prevalence of novel sequences originating from ancient individuals. These findings provide valuable insights into the incorporation of ancient human genes into the modern East Asian genome, fostering advancements in the broader field of ancient DNA research.


Figure 1 Pangenome samples of Chinese populations and the diversity of the α-globin gene cluster they reveal

Professor Ye Kai from Xi'an Jiaotong University, Professor Xu Shuhua from Fudan University, Professor Chu Jiayou from the Chinese Academy of Medical Sciences, and Associate Professor Lu Yan from Fudan University are the corresponding authors of this paper. Associate Professor Yang Xiaofei from Xi'an Jiaotong University, postdoctoral fellow Gao Yang from Fudan University, PhD students Chen Hao and Tan Xinjiang from the Shanghai Institute of Nutrition and Health, Researcher Yang Zhaoqing from the Chinese Academy of Medical Sciences, and Researcher Deng Lian from Fudan University are the co-first authors of the paper.

The establishment of the Chinese Pangenome Consortium symbolizes a collaborative effort led by Xi'an Jiaotong University, Fudan University, and other institutions, with the shared objective of constructing a high-quality and precise reference pangenome representative of the Chinese population.