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

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Feb 26, 2025

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 !

Feb 14, 2025

Welcome new postdoc fellow !

Welcome Dr. Jieyi Chen joining our lab as a postdoc fellow !

Dec 02, 2024

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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  • 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

    LINK
  • 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

    LINK
  • 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

    LINK
  • 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

    LINK
  • Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies

    Ma, K., Yang, X., Mao, Y.*

    Trends in Genetics, 2024

    LINK