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

Wu, D.; Yang, C.; Chen, Q.; Suo, M.; Zhou, F.; Liu, A.; Yu, D.; Nie, L.; Yang, T.; Sun, Y.; Han, J.; Yang, L.; Ni, Q.; Sun, D.; Lu, Y.; Fu, L.; Yang, Y.; Yu, J.; Qi, J.; Dai, W.; Yang, X.; Qiu, L.; Yang, D.; Jiao, Y.; Zhang, W.; Wang, F.; Zeng, Z.; Feng, Z.; Chen, Y.; Li, Y.; Zhao, S.; Long, A.; Wang, Z.; Li, Q.; Zhao, R.; Ding, G.; Wang, Q.; Tuo, Y.; Li, H.; Liu, K.; Zhang, Y.; Yan, X.; Dawa, D.; Bi, A.; Chen, G.; Qian, S. H.; Li, X.; Bi, X.; Liu, J.; Li, J.; Fu, K.; Ye, S.; Wang, S.; Yang, J.; Zhou, Q.; Jiang, J.; Xu, W.; Liu, Y.; Meng,

doi:10.64898/2026.07.27.740875

bioRxiv · 10.64898/2026.07.27.740875

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

Wu, D.·Yang, C.·Chen, Q.·Suo, M.·Zhou, F.·Liu, A.·Yu, D.·Nie, L.·Yang, T.·Sun, Y.·Han, J.·Yang, L.·Ni, Q.·Sun, D.·Lu, Y.·Fu, L.·Yang, Y.·Yu, J.·Qi, J.·Dai, W.·Yang, X.·Qiu, L.·Yang, D.·Jiao, Y.·Zhang, W.·Wang, F.·Zeng, Z.·Feng, Z.·Chen, Y.·Li, Y.·Zhao, S.·Long, A.·Wang, Z.·Li, Q.·Zhao, R.·Ding, G.·Wang, Q.·Tuo, Y.·Li, H.·Liu, K.·Zhang, Y.·Yan, X.·Dawa, D.·Bi, A.·Chen, G.·Qian, S. H.·Li, X.·Bi, X.·Liu, J.·Li, J.·Fu, K.·Ye, S.·Wang, S.·Yang, J.·Zhou, Q.·Jiang, J.·Xu, W.·Liu, Y.·Meng,

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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.

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Wu, D., Yang, C., Chen, Q., Suo, M., Zhou, F., Liu, A., Yu, D., Nie, L., Yang, T., Sun, Y., Han, J., Yang, L., Ni, Q., Sun, D., Lu, Y., Fu, L., Yang, Y., Yu, J., Qi, J., Dai, W., Yang, X., Qiu, L., Yang, D., Jiao, Y., Zhang, W., Wang, F., Zeng, Z., Feng, Z., Chen, Y., Li, Y., Zhao, S., Long, A., Wang, Z., Li, Q., Zhao, R., Ding, G., Wang, Q., Tuo, Y., Li, H., Liu, K., Zhang, Y., Yan, X., Dawa, D., Bi, A., Chen, G., Qian, S. H., Li, X., Bi, X., Liu, J., Li, J., Fu, K., Ye, S., Wang, S., Yang, J., Zhou, Q., Jiang, J., Xu, W., Liu, Y., Meng,. 2026-07-28. Hidden genetic diversity in 320 nearly-complete East Asian genome assemblies. https://doi.org/10.64898/2026.07.27.740875

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