本课题组从事灵长类演化医学研究，通过开发新型计算和实验方法深入解析灵长类基因组的结构和演化形成，及其新功能和疾病发生机制。主要研究成果以通讯作者发表在Nature、Cell、Nature Methods、Genome Biology、Cell Genomics等杂志上。目前担任Genome Biology等编委。获得科学探索奖，高校青年教师科研创新能力支持项目(U40)，国家级青年人才计划等支持。

1. 演化与功能基因组学

2. 演化与医学遗传学

3. 脑疾病

1. Zhang, S., Xu, N., Fu, L., Yang, X., Li, Y., Yang, Z., ... Sun, Q.* & Mao, Y.* (2025).Integrated analysis of the complete sequence of a macaque genome. Nature, 1-8

2. Yang, Z., Zhang, L., Jiang, X., Yang, X., Ma, K., Yoo, D., ... & Mao, Y.* (2026). Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation. Cell Genomics, 6(1).

3. Ma, K., Yang, X., Mao, Y.* (2025). Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies. Trends in Genetics, 41(3),201-217.

4. Mao, Y.*, Harvey, W. T., Porubsky, D., Munson, K. M., Hoekzema, K., Lewis, A. P., ... & Eichler, E. E.* (2024). Structurally divergent and recurrently mutated regions of primate genomes. Cell

5. Yang, X., Wang, X., Zou, Y. ... Mao, Y.*. (2023). Characterization of large-scale genomic differences in the first complete human genome. Genome Biology, 24, 157.

长期从事神经系统疾病的神经与遗传机制研究，结合小鼠、非人灵长类及类脑器官等模型开展相关工作。主持国家自然科学基金青年基金、中国博士后科学基金、“交大之星”医工交叉研究基金等项目，并参与国家重点研发计划“前沿生物技术”重点专项等国家级项目。

神经系统疾病的神经遗传机制

      利用三代测序技术精准解析神经系统疾病患者的遗传特征，并结合多种研究技术（包括人类诱导多能干细胞（iPSCs）、脑类器官、基因组编辑、在体电生理、单细胞测序等），系统探索神经发育疾病的生物学机制。相关工作发表于Cell Genomics (2026),Trends in Genetics(2024),Genome Biology (2023),Zoological Research(2023)等期刊上。

动物及类脑神经接口设计与应用

      合作实现动物及类脑神经接口设计工作，通过在动物模型和类脑组织中建立神经接口，实现多层次的神经系统功能研究，深入挖掘神经系统疾病机制。相关工作发表于Biology(2025), Molecular Brain (2022), Frontiers in Integrative Neuroscience (2021) 等期刊；并获得发明专利授权1项。

1. Yang ZK#, Zhang L#, Jiang XR#, Yang XY#, Ma KY, Yoo DA, ... Mao YF*. Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation. Cell Genomics. 2026 Jan 14;6(1):101079.

2. Yang XY*, Wu ZP, Wang ZY, Wang LH, Xia ST, Li WD, He GQ*. LIMK1 Deficiency Disrupts Hippocampal–Cortical Memory Consolidation and Attenuates Trauma-Induced PTSD-like Behavior. Biology. 2025, 14(11), 1560;

3. Ma KY#,Yang XY#, Mao YF*. Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies[J].Trends in Genetics, 2024.（Cover Story）

4. Yang XY, Mao YF, Wang XK., Ma DN, Xu Z, Gong N, ... Li WD*. (2023). Population genetics of marmosets in Asian primate research centers and loci associated with epileptic risk revealed by whole-genome sequencing. Zoological Research, 44(5), 837.

5. Yang XY#, Wang XK#, Zou YW, Zhang SL, Xia MY, Fu LT, ... & Mao YF*. (2023). Characterization of large-scale genomic differences in the first complete human genome. Genome biology, 24(1), 157.

6. Yang XY#, Chen ZT#, Wang ZY, He G, Li ZQ, Shi YY, ... Li WD*. (2022). A natural marmoset model of genetic generalized epilepsy. Molecular Brain, 15(1), 1-4.