Publications

T. Souaiaia, H. M. Wu, A. P. S. Ori, S. W. Choi, C. J. Hoggart, P. F. O’Reilly (2026). Distinct genetic architecture in the tails of complex traits. Nature, (655), 8123, pp. 676–684, https://doi.org/10.1038/s41586-026-10516-5.

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Shing Wan Choi, Judit Garcia-Gonzalez, Yunfeng Ruan, Hei Man Wu, Christian Porras, Jessica Johnson, Bipolar Disorder Working group of the Psychiatric Genomics Consortium, Clive J. Hoggart, Paul F. O’Reilly (2023). PRSet: Pathway-based polygenic risk score analyses and software. PLOS Genetics, (19), 2, pp. e1010624, https://doi.org/10.1371/journal.pgen.1010624.

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Shing Wan Choi, Timothy Shin Heng Mak, Clive J. Hoggart, Paul F. O’Reilly (2023). EraSOR: a software tool to eliminate inflation caused by sample overlap in polygenic score analyses. GigaScience, (12), pp. giad043, https://doi.org/10.1093/gigascience/giad043.

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Clive J. Hoggart, Shing Wan Choi, Judit Garcia-Gonzalez, Tade Souaiaia, Michael Preuss, Paul F. O’Reilly (2023). BridgePRS leverages shared genetic effects across ancestries to increase polygenic risk score portability. Nature Genetics, (56), 1, pp. 180–186, https://doi.org/10.1038/s41588-023-01583-9.

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Shing Wan Choi, Timothy Shin-Heng Mak, Paul F. O’Reilly (2020). Tutorial: a guide to performing polygenic risk score analyses. Nature Protocols, (15), 9, pp. 2759–2772, https://doi.org/10.1038/s41596-020-0353-1.

Source Document DOI

Shing Wan Choi, Paul O’Reilly (2019). PRSice-2 Polygenic Risk Score software for biobank-scale data. GigaScience.

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Tabea Schoeler, Shing Wan Choi, Frank Dudbridge, Jessie Baldwin, Lauren Duncan, Charlotte M. Cecil, Esther Walton, Essi Viding, Eamon McCrory, Jean-Baptiste Pingault (2019). Multi–Polygenic Score Approach to Identifying Individual Vulnerabilities Associated With the Risk of Exposure to Bullying. JAMA Psychiatry.

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Jonathan R.I. Coleman, Wouter J. Peyrot, Kirstin L. Purves, Katrina A.S. Davis, Christopher Rayner, Shing Wan Choi, Christopher Hübel, Héléna A. Gaspar, Carol Kan, Sandra Van der Auwera, Mark James Adams, Donald M. Lyall, Karmel W. Choi, Erin C. Dunn, Evangelos Vassos, Andrea Danese, Barbara Maughan, Hans J. Grabe, Cathryn M. Lewis, Paul F. O’Reilly, Andrew M. McIntosh, Daniel J. Smith, Naomi R. Wray, Matthew Hotopf, Thalia C. Eley, Gerome Breen (2019). Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. bioRxiv.

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SP Hagenaars, JRI Coleman, Shing Wan Choi, H Gaspar, MJ Adams, D Howard, K Hodgson, M Traylor, TM Air, TFM Andlauer, V Arolt, BT Baune, EB Binder, DHR Blackwood, DI Boomsma, A Campbell, M Cearns, D Czamara, U Dannlowski, K Domschke, EJC de Geus, SP Hamilton, C Hayward, I Hickie, JJ Hottenga, M Ising, I Jones, LA Jones, Z Kutalik, S Lucae, NG Martin, Y Milaneschi, B Mueller-Myhsok, MJ Owen, S Padmanabhan, BWJH Penninx, G Pistis, DJ Porteous, M Preisig, S Ripke, SI Shyn, PF Sullivan, J Whitfield, NR Wray, AM McIntosh, IJ Deary, G Breen, CM Lewis (2019). Genetic comorbidity between major depression and cardio-metabolic disease, stratified by age at onset of major depression. bioRxiv.

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Karen Hodgson, Jonathan RI Coleman, Saskia P Hagenaars, Kirstin Lee Purves, Shing Wan Choi, Paul F O’Reilly, Gerome F Breen, Cathryn M Lewis (2019). Cannabis use, depression and self-harm: phenotypic and genetic relationships. bioRxiv.

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Shing Wan Choi, Timothy Shin Heng Mak, Pak Chung Sham, Paul O’Reilly (2018). Detecting and Controlling for Biased Sampling in Case/Control PRS Studies. In WCPG.

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Timothy Mak, Robert Milan Porsch, Shing Wan Choi, Pak Chung Sham (2018). Polygenic scores for UK Biobank scale data. bioRxiv.

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Ebba Du Rietz, Jonathan Coleman, Kylie Glanville, Shing Wan Choi, Paul F. O’Reilly, Jonna Kuntsi (2018). Association of Polygenic Risk for Attention-Deficit/Hyperactivity Disorder With Co-occurring Traits and Disorders. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging.

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Timothy Shin Heng Mak, Robert Milan Porsch, Shing Wan Choi, Xueya Zhou, Pak Chung Sham (2017). Polygenic scores via penalized regression on summary statistics. Genetic Epidemiology.

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Shing Wan Choi (2017). GreedyRelated: Script for greedily remove related samples.

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Kwong-Man Ng, Pamela Y. Mok, Amy W. Butler, Jenny C. Y. Ho, Shing-Wan Choi, Yee-Ki Lee, Wing-Hon Lai, Ka-Wing Au, Yee-Man Lau, Lai-Yung Wong, Miguel A. Esteban, Chung-Wah Siu, Pak C. Sham, Alan Colman, Hung-Fat Tse (2016). Amelioration of X-Linked Related Autophagy Failure in Danon Disease with DNA Methylation Inhibitor. Circulation.

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Yung-Tuen Chiu, John K. L. Wong, Shing-Wan Choi, Karen M. F. Sze, Daniel W. H. Ho, Lo-Kong Chan, Joyce M. F. Lee, Kwan Man, Stacey Cherny, Wan-Ling Yang, Chun-Ming Wong, Pak-Chung Sham, Irene O. L. Ng (2016). Novel pre-mRNA splicing of intronically integrated HBV generates oncogenic chimera in hepatocellular carcinoma. Journal of Hepatology.

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Monica Aas, Gabriëlla A. M. Blokland, Samuel J. R. A. Chawner, Shing-Wan Choi, Jose Estrada, Annika Forsingdal, Maximilian Friedrich, Suhas Ganesham, Lynsey Hall, Denise Haslinger, Laura Huckins, Erik Loken, Stefanie Malan-Müller, Joanna Martin, Zuzanna Misiewicz, Luca Pagliaroli, Antonio F. Pardiñas, Claudia Pisanu, Giorgia Quadri, Marcos L. Santoro, Alex D. Shaw, Siri Ranlund, Jie Song, Martin Tesli, Maria Tropeano, Monique van der Voet, Kate Wolfe, Freida K. Cormack, Lynn DeLisi (2016). Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, October 2014.

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Shing Wan Choi (2016). The genetics of schizophrenia : the contribution of common variants and genes implicated in a maternal immune activation model.

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Hung-Fat Tse, Jenny C. Y. Ho, Shing-Wan Choi, Yee-Ki Lee, Amy W. Butler, Kwong-Man Ng, Chung-Wah Siu, Michael A. Simpson, Wing-Hon Lai, Yau-Chi Chan, Ka-Wing Au, Jinqiu Zhang, Kenneth W. J. Lay, Miguel A. Esteban, John M. Nicholls, Alan Colman, Pak C. Sham (2013). Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing. Human Molecular Genetics.

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Xuan Liu, Shing-Wan Choi, Thomas K. F. Wong, Tak-Wah Lam, Siu-Ming Yiu (2011). Detection of Novel Tandem Duplication with Next-generation Sequencing. Proceedings of the 2Nd ACM Conference on Bioinformatics, Computational Biology and Biomedicine.

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