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, 'A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA' is online in Nature Communications !
Our work, 'A long-read human pangenome initiative for comprehensive interpretation of nuclear-embedded mitochondrial DNA' is online in Nature Communications !
Our work, 'Complex subtelomeric architectures in a complete rhesus macaque reference genome' is accepted!
Our work, 'Complex subtelomeric architectures in a complete rhesus macaque reference genome' is accepted!
Welcome new postdoc fellow !
Welcome Dr. Pengming Zeng joining our lab as a postdoc fellow !
Selected Publications
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DOI
Complex subtelomeric architectures in a complete rhesus macaque reference genome
Zhang, S., Xu, N., Lu, Y., Nie, Y., Li, Z., de Gennaro, L., ... Li, Z., ... Fu L., Zhang, Z., Chen, J., Ma, K., Yang, X., Zhang, J., ... Sun, Q.* & Mao, Y.*
bioRxiv (Accepted), 2026
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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
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
Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies
Ma, K., Yang, X., Mao, Y.*
Trends in Genetics, 2024