Hidden genetic diversity in 320 nearly-complete East Asian genome assemblies

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Authors: Dongya Wu, Chentao Yang, Quanyu Chen, Mingyu Suo, Feifei Zhou, Anguo Liu, Dan Yu, Lei Nie, Ting Yang, Yanqing Sun, Junmin Han, Lili Yang
+85 more Qingyang Ni, Di Sun, Yanlin Lu, Lianting Fu, Yiqing Yang, Jie Yu, Jiajia Qi, Wei Dai, Xiangyu Yang, Lingxin Qiu, Dongxia Yang, Yonghui Jiao, Feng Zhou, Wenya Zhang, Fen Wang, Yihua Yang, Zhonghong Zeng, Zonghui Feng, Yan Chen, Yafeng Li, Li YaHeng, Shuyun Zhao, Aizhuan Long, Zhixue Wang, Qiye Li, Ruoping Zhao, Guo Ding, Qiong Wang, Ya Tuo, Jingjing Yu, Hui Li, Kai Liu, Yu Zhang, Xiaosong Yan, Dawa Dawa, Yanfei Zhang, Aoyue Bi, Guangji Chen, Sheng Hu Qian, Xin Li, Xupeng Bi, Jing Liu, Jiaqi Li, Kezhi Fu, Sirui Ye, Shichun Wang, Jialan Yang, Qi Zhou, Jingxin Jiang, Wenna Xu, Yifeng Liu, Aixia Liu, Jiajun Meng, Yunlong Zhao, Yu Zhou, Bo Hong, Chuanfeng Lin, Long Zhou, Feng Liu, Jiawei Yang, Yunqiu He, Xiaofei Yang, Xiaotao Wang, Chuanle Xiao, Longjiang Fan, Ammar Al-Baadani, Jian Chen, Aifu Lin, Wanlin Wang, Weijie Fang, Zihui Zhang, Yaoxi He, YongYong SHI, Kai Ye, Qi Zhou, Bing Su, Jian Huang, Jian Xu, Kai Wang, Dan Zhang, Hefeng Huang, Songmin Ying, Tianhua Zhou, Yafei Mao, Guojie Zhang
Cited by: 1

Abstract

East Asian populations, representing over 20% of the global population, remain critically underrepresented in human genomic studies, limiting our understanding of population-stratified genetic variation and its implications for health and disease. Here we present the first phase of the Asian Pan-Genome project (APG), comprising 320 nearly complete, fully phased haploid genome assemblies from 160 East Asian individuals. These assemblies achieve unprecedented quality, with an average contig N50 of 144.3 megabase pairs and an average quality value of 64.5. Leveraging these superior assemblies, we reveal previously uncharacterized diversity in human repeatome, including population-stratified patterns in centromere satellites and rDNA arrays. Compared to existing global human genome assemblies, the newly generated genomes supplement 152 million base pairs of novel sequences, 355 gene gains, 18,300 structural variation loci and 26 large euchromatic inversions missing from current human pangenomes. We perform population stratification analyses of structural variations, and further resolve the structural haplotypes of complex genomic regions such as Major Histocompatibility Complex and Survival Motor Neuron loci across global pangenomes, exemplifying tandem-duplicate and inversion-rich complex locus architectures in the human genome, respectively. This resource provides a critical foundation for human genetic studies, especially for East Asian populations, promoting more accurate variant discovery, reducing bias, and ultimately advancing the equity and efficacy of genomic medicine.

Fields of Study & Subjects

Genomics and Phylogenetic Studies Genomic variations and chromosomal abnormalities Genetic Associations and Epidemiology

Publication details

Journal / source
bioRxiv (Cold Spring Harbor Laboratory)
Publisher
openRxiv
Publication date
28 July 2026
Document type
Preprint