A comprehensive genetic variant reference for the Chinese population

Tao Jiang, Hongzhe Guo, Yadong Liu et al.

The characterization of natural variations in the population of China, which is the largest worldwide, is necessary to help elucidate its genetic diversity and identify typical Chinese-specific variants, a critical step in the development of precision medicine. The many valuable genetic resources currently available for the Chinese population are already playing a pivotal role in genomics research. However, these genetic resources are heavily skewed towards people of Han descent, and the structural variants (SVs) present in the Chinese population have not been characterized at a large scale. These factors contribute to uneven success in revealing genetic diversity and promoting precision medicine in China. To address these issues, we sampled 25,734 Chinese individuals, including people from several significant ethnic minorities, and performed short- and long-read whole-genome sequencing (WGS). Approximately 279 million high-quality variants of different types were discovered, nearly 38.27% of which were previously unreported. Based on this work, we report the most complete spectrum of Chinese SVs to date. Furthermore, we constructed the most extensive WGS-based haplotype reference panel for the Chinese population reported to date, which will substantially improve genotype imputation in diverse Chinese populations and contribute to understanding overall human genetic diversity, in turn promoting precision medicine and clinical research. The Chinese genetic map in this study is available at http://bioinformatics.hit.edu.cn/chnpop/.

2018年启动我国首个，世界规模最大的健康人群基因组研究计划——十万人基因组计划。此计划旨在从我国七大主要区域选取十万参比人群样本，进行全基因组测序和PB级基因组大数据分析，构建世界最高精度的基因组变异图谱，揭示基因密码，并发现基因与环境、表型之间的重要关系，为健康中国建设奠定科学基础。十万人基因组计划获得央视新闻等多家中外媒体报道，在国际科学界产生巨大反响。