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2025

Journal Article

Harnessing functional annotation to improve the accuracy and transferability of polygenic scores

Zeng, Jian and Visscher, Peter M. (2025). Harnessing functional annotation to improve the accuracy and transferability of polygenic scores. Nature Reviews Genetics, 26 (12), 1-2. doi: 10.1038/s41576-025-00893-4

Harnessing functional annotation to improve the accuracy and transferability of polygenic scores

2025

Journal Article

MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics

Boquet-Pujadas, Aleix, Zeng, Jian, Tian, Ye Ella, Yang, Zhijian, Shen, Li, Zalesky, Andrew, Davatzikos, Christos and Wen, Junhao (2025). MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics. Briefings in Bioinformatics, 26 (2) bbaf125, 1-16. doi: 10.1093/bib/bbaf125

MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics

2025

Journal Article

Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

Adams, Mark J., Streit, Fabian, Meng, Xiangrui, Awasthi, Swapnil, Adey, Brett N., Choi, Karmel W., Chundru, V. Kartik, Coleman, Jonathan R.I., Ferwerda, Bart, Foo, Jerome C., Gerring, Zachary F., Giannakopoulou, Olga, Gupta, Priya, Hall, Alisha S.M., Harder, Arvid, Howard, David M., Hübel, Christopher, Kwong, Alex S.F., Levey, Daniel F., Mitchell, Brittany L. (Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium member), Ni, Guiyan, Ota, Vanessa K., Pain, Oliver, Pathak, Gita A., Schulte, Eva C., Shen, Xueyi, Thorp, Jackson G., Walker, Alicia, Yao, Shuyang ... McIntosh, Andrew M. (2025). Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies. Cell, 188 (3), 640-652.e9. doi: 10.1016/j.cell.2024.12.002

Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

2025

Journal Article

Connecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity

Yao, Shuyang, Harder, Arvid, Darki, Fahimeh, Chang, Yu-Wei, Li, Ang, Nikouei, Kasra, Volpe, Giovanni, Lundström, Johan N., Zeng, Jian, Wray, Naomi R., Lu, Yi, Sullivan, Patrick F. and Hjerling-Leffler, Jens (2025). Connecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity. Nature Communications, 16 (1) 395, 1-18. doi: 10.1038/s41467-024-55611-1

Connecting genomic results for psychiatric disorders to human brain cell types and regions reveals convergence with functional connectivity

2025

Journal Article

Tracing human trait evolution through integrative genomics and temporal annotations

Zeng, Jian (2025). Tracing human trait evolution through integrative genomics and temporal annotations. Cell Genomics, 5 (2) 100767, 100767-2. doi: 10.1016/j.xgen.2025.100767

Tracing human trait evolution through integrative genomics and temporal annotations

2024

Journal Article

DINGO: increasing the power of locus discovery in maternal and fetal genome-wide association studies of perinatal traits

Hwang, Liang-Dar, Cuellar-Partida, Gabriel, Yengo, Loic, Zeng, Jian, Toivonen, Jarkko, Arvas, Mikko, Beaumont, Robin N., Freathy, Rachel M., Moen, Gunn-Helen, Warrington, Nicole M. and Evans, David M. (2024). DINGO: increasing the power of locus discovery in maternal and fetal genome-wide association studies of perinatal traits. Nature Communications, 15 (1) 9255, 1-14. doi: 10.1038/s41467-024-53495-9

DINGO: increasing the power of locus discovery in maternal and fetal genome-wide association studies of perinatal traits

2024

Journal Article

Brain cell-type shifts in Alzheimer’s disease, autism, and schizophrenia interrogated using methylomics and genetics

Yap, Chloe X., Vo, Daniel D., Heffel, Matthew G., Bhattacharya, Arjun, Wen, Cindy, Yang, Yuanhao, Kemper, Kathryn E., Zeng, Jian, Zheng, Zhili, Zhu, Zhihong, Hannon, Eilis, Vellame, Dorothea Seiler, Franklin, Alice, Caggiano, Christa, Wamsley, Brie, Geschwind, Daniel H., Zaitlen, Noah, Gusev, Alexander, Pasaniuc, Bogdan, Mill, Jonathan, Luo, Chongyuan and Gandal, Michael J. (2024). Brain cell-type shifts in Alzheimer’s disease, autism, and schizophrenia interrogated using methylomics and genetics. Science Advances, 10 (21) adn7655, eadn7655. doi: 10.1126/sciadv.adn7655

Brain cell-type shifts in Alzheimer’s disease, autism, and schizophrenia interrogated using methylomics and genetics

2024

Journal Article

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Keaton, Jacob M., Kamali, Zoha, Xie, Tian, Vaez, Ahmad, Williams, Ariel, Goleva, Slavina B., Ani, Alireza, Evangelou, Evangelos, Hellwege, Jacklyn N., Yengo, Loic, Young, William J., Traylor, Matthew, Giri, Ayush, Zheng, Zhili, Zeng, Jian, Chasman, Daniel I., Morris, Andrew P., Caulfield, Mark J., Hwang, Shih-Jen, Kooner, Jaspal S., Conen, David, Attia, John R., Morrison, Alanna C., Loos, Ruth J. F., Kristiansson, Kati, Schmidt, Reinhold, Hicks, Andrew A., Pramstaller, Peter P., Nelson, Christopher P. ... ICBP Consortium (2024). Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits. Nature Genetics, 56 (5), 1-14. doi: 10.1038/s41588-024-01714-w

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

2024

Journal Article

Unravelling the complex causal effects of substance use behaviours on common diseases

Xue, Angli, Zhu, Zhihong, Wang, Huanwei, Jiang, Longda, Visscher, Peter M., Zeng, Jian and Yang, Jian (2024). Unravelling the complex causal effects of substance use behaviours on common diseases. Communications Medicine, 4 (1) 43, 1-13. doi: 10.1038/s43856-024-00473-3

Unravelling the complex causal effects of substance use behaviours on common diseases

2024

Journal Article

HOPX-associated molecular programs control cardiomyocyte cell states underpinning cardiac structure and function

Friedman, Clayton E., Cheetham, Seth W., Negi, Sumedha, Mills, Richard J., Ogawa, Masahito, Redd, Meredith A., Chiu, Han Sheng, Shen, Sophie, Sun, Yuliangzi, Mizikovsky, Dalia, Bouveret, Romaric, Chen, Xiaoli, Voges, Holly K., Paterson, Scott, De Angelis, Jessica E., Andersen, Stacey B., Cao, Yuanzhao, Wu, Yang, Jafrani, Yohaann M.A., Yoon, Sohye, Faulkner, Geoffrey J., Smith, Kelly A., Porrello, Enzo, Harvey, Richard P., Hogan, Benjamin M., Nguyen, Quan, Zeng, Jian, Kikuchi, Kazu, Hudson, James E. and Palpant, Nathan J. (2024). HOPX-associated molecular programs control cardiomyocyte cell states underpinning cardiac structure and function. Developmental Cell, 59 (1), 91-107.e6. doi: 10.1016/j.devcel.2023.11.012

HOPX-associated molecular programs control cardiomyocyte cell states underpinning cardiac structure and function

2023

Journal Article

Developing flexible models for genetic evaluations in smallholder crossbred dairy farms

Costilla, R., Zeng, J., Al Kalaldeh, M., Swaminathan, M., Gibson, J.P., Ducrocq, V. and Hayes, B.J. (2023). Developing flexible models for genetic evaluations in smallholder crossbred dairy farms. Journal of Dairy Science, 106 (12), 9125-9135. doi: 10.3168/jds.2022-23135

Developing flexible models for genetic evaluations in smallholder crossbred dairy farms

2023

Journal Article

Learning functional conservation between human and pig to decipher evolutionary mechanisms underlying gene expression and complex traits

Li, Jinghui, Zhao, Tianjing, Guan, Dailu, Pan, Zhangyuan, Bai, Zhonghao, Teng, Jinyan, Zhang, Zhe, Zheng, Zhili, Zeng, Jian, Zhou, Huaijun, Fang, Lingzhao and Cheng, Hao (2023). Learning functional conservation between human and pig to decipher evolutionary mechanisms underlying gene expression and complex traits. Cell Genomics, 3 (10) 100390, 100390. doi: 10.1016/j.xgen.2023.100390

Learning functional conservation between human and pig to decipher evolutionary mechanisms underlying gene expression and complex traits

2023

Journal Article

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

Sullivan, Patrick F., Meadows, Jennifer R. S., Gazal, Steven, Phan, BaDoi N., Li, Xue, Genereux, Diane P., Dong, Michael X., Bianchi, Matteo, Andrews, Gregory, Sakthikumar, Sharadha, Nordin, Jessika, Roy, Ananya, Christmas, Matthew J., Marinescu, Voichita D., Wang, Chao, Wallerman, Ola, Xue, James, Yao, Shuyang, Sun, Quan, Szatkiewicz, Jin, Wen, Jia, Huckins, Laura M., Lawler, Alyssa, Keough, Kathleen C., Zheng, Zhili, Zeng, Jian, Wray, Naomi R., Li, Yun, Johnson, Jessica ... Zoonomia Consortium§ (2023). Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science, 380 (6643) eabn2937, 1-12. doi: 10.1126/science.abn2937

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

2022

Journal Article

Genetic control of RNA splicing and its distinct role in complex trait variation

Qi, Ting, Wu, Yang, Fang, Hailing, Zhang, Futao, Liu, Shouye, Zeng, Jian and Yang, Jian (2022). Genetic control of RNA splicing and its distinct role in complex trait variation. Nature Genetics, 54 (9), 1355-1363. doi: 10.1038/s41588-022-01154-4

Genetic control of RNA splicing and its distinct role in complex trait variation

2022

Journal Article

Extend mixed models to multilayer neural networks for genomic prediction including intermediate omics data

Zhao, Tianjing, Zeng, Jian and Cheng, Hao (2022). Extend mixed models to multilayer neural networks for genomic prediction including intermediate omics data. Genetics, 221 (1) iyac034. doi: 10.1093/genetics/iyac034

Extend mixed models to multilayer neural networks for genomic prediction including intermediate omics data

2022

Journal Article

Comparative analysis reveals novel changes in plasma metabolites and metabolomic networks of infants with retinopathy of prematurity

Yang, Yuhang, Yang, Qian, Luo, Sisi, Zhang, Yinsheng, Lian, Chaohui, He, Honghui, Zeng, Jian and Zhang, Guoming (2022). Comparative analysis reveals novel changes in plasma metabolites and metabolomic networks of infants with retinopathy of prematurity. Investigative Ophthalmology and Visual Science, 63 (1) 28. doi: 10.1167/iovs.63.1.28

Comparative analysis reveals novel changes in plasma metabolites and metabolomic networks of infants with retinopathy of prematurity

2021

Journal Article

A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts

Ni, Guiyan, Zeng, Jian, Revez, Joana A., Wang, Ying, Zheng, Zhili, Ge, Tian, Restuadi, Restuadi, Kiewa, Jacqueline, Nyholt, Dale R., Coleman, Jonathan R.I., Smoller, Jordan W., Yang, Jian, Visscher, Peter M. and Wray, Naomi R. (2021). A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts. Biological Psychiatry, 90 (9), 611-620. doi: 10.1016/j.biopsych.2021.04.018

A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts

2021

Journal Article

Tumor mutational burden is polygenic and genetically associated with complex traits and diseases

Sun, Xiwei, Xue, Angli, Qi, Ting, Chen, Dan, Shi, Dandan, Wu, Yang, Zheng, Zhili, Zeng, Jian and Yang, Jian (2021). Tumor mutational burden is polygenic and genetically associated with complex traits and diseases. Cancer Research, 81 (5) canres.3459.2020, 12230-1239. doi: 10.1158/0008-5472.can-20-3459

Tumor mutational burden is polygenic and genetically associated with complex traits and diseases

2021

Journal Article

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

Yap, Chloe X., Alvares, Gail A., Henders, Anjali K., Lin, Tian, Wallace, Leanne, Farrelly, Alaina, McLaren, Tiana, Berry, Jolene, Vinkhuyzen, Anna A. E., Trzaskowski, Maciej, Zeng, Jian, Yang, Yuanhao, Cleary, Dominique, Grove, Rachel, Hafekost, Claire, Harun, Alexis, Holdsworth, Helen, Jellett, Rachel, Khan, Feroza, Lawson, Lauren, Leslie, Jodie, Levis Frenk, Mira, Masi, Anne, Mathew, Nisha E., Muniandy, Melanie, Nothard, Michaela, Visscher, Peter M., Dawson, Paul A., Dissanayake, Cheryl ... Gratten, Jacob (2021). Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. Molecular Autism, 12 (1) 12, 12. doi: 10.1186/s13229-020-00407-5

Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank

2021

Journal Article

Genome-wide analyses of behavioural traits are subject to bias by misreports and longitudinal changes

Xue, Angli, Jiang, Longda, Zhu, Zhihong, Wray, Naomi R., Visscher, Peter M., Zeng, Jian and Yang, Jian (2021). Genome-wide analyses of behavioural traits are subject to bias by misreports and longitudinal changes. Nature Communications, 12 (1) 6450, 6450. doi: 10.1038/s41467-020-20237-6

Genome-wide analyses of behavioural traits are subject to bias by misreports and longitudinal changes