Evo-Geno-Disease
Our laboratory has broad interests in evolutionary and medical genomics, integrating experimental and computational approaches to investigate genome complexity in humans and nonhuman primates. We aim to elucidate how complex and structurally divergent genomic regions contribute to primate adaptive evolution and the origins of human genetic diseases. In parallel, we pursue collaborative projects on corals and other marine organisms, leveraging genomics to study their evolution and biology in systems that remain largely understudied yet biologically compelling.
Latest News
View all →Our work, 'Integrated analysis of the complete sequence of a macaque genome' is online in Nature !
Our work, 'Integrated analysis of the complete sequence of a macaque genome' is online in Nature !
Welcome new postdoc fellow !
Welcome Dr. Jieyi Chen joining our lab as a postdoc fellow !
Congratulations to Kaiyue, Xiangyu and Yafei. Their review article about evolutionary medicine is online at Trends in Genetics !
Congratulations to Kaiyue, Xiangyu and Yafei. Their review article about evolutionary medicine is online at Trends in Genetics !
Selected Publications
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DOI
Integrated analysis of the complete sequence of a macaque genome
Zhang, S., Xu, N., Fu, L., Yang, X., Li, Y., Yang, Z., Li, Z., Feng. Y., Jiang, X., Han, J., Hu, R., Zhang, L., Lian, D., … Sun, Q.*, & Mao, Y.*
Nature, 2025
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DOI
Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation
Yang, Z., Zhang, L., Jiang, X., Yang, X., Ma, K., Yoo, D., ... Sun, Q.*, Eichler, E. E.* & Mao, Y.*
Cell Genomics, 2025
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DOI
A complete and near-perfect rhesus macaque reference genome: lessons from subtelomeric repeats and sequencing bias
Shilong Zhang, Ning Xu, Yong Lu, Yanhong Nie, Zhengtong Li, Luciana de Gennaro, Lianting Fu, Zhendong Zhang, Jieyi Chen, Kaiyue Ma, Xiangyu Yang, Juan Zhang, Matthew T. Schmitz, Francesca Antonacci, Trygve E. Bakken, Mario Ventura, Adam M. Phillippy, Qiang Sun, Yafei Mao.
bioRxiv, 2025
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DOI
Structurally divergent and recurrently mutated regions of primate genomes
Mao, Y.*, Harvey, W. T., Porubsky, D., Munson, K. M., Hoekzema, K., Lewis, A. P., Audano, P. A., Rozanski, A., Yang, X., Zhang, S., ... & Eichler, E. E.*
Cell, 2024
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DOI
A high-quality bonobo genome refines the analysis of hominid evolution.
Yafei Mao., Catacchio, C.R., Hillier, L.W., Porubsky, D., Li, R., Sulovari, A., ... & Eichler, E.E.*
Nature, 2021