Genetics & Genomics
Research Interests
- Decipher pathogenic genomic variants by genome sequencing in paediatric rare diseases
- Investigate the contribution of structural genomic variants in human diseases
- Development and implementation of novel genomic approaches in preconceptional, prenatal and neonatal genetic diagnosis
Description of research topics
- Development and implementation of state-of-the-art genome sequencing approaches in clinical genetic diagnostics for comprehensive genomic variant detection
- Development of low-pass genome sequencing bioinformatic pipelines for genomic variant detection
- Resolution of underappreciated genomic variants in genetics and genomic diagnostic testing
- Functional genomics: from methylation to RNA RNA, chromosomal contact (Hi-C) and epigenetic modification (ChIP-seq) to elucidate their impact on gene regulation and pathogenesis of diseases
- Elucidating pathogenic molecular mechanisms and genotype-phenotype associations in novel disease gene discovery through multi-omics and cellular models
Ongoing research
- Identifying missing heritability and genetic etiologies of undiagnosed fetuses and children with multiple congenital anomalies by long-read genome sequencing (GRF)
- Evaluation of the Diagnostic Utility of Concurrent Mate-pair Genome Sequencing and RNA Sequencing in Childhood B-progenitor Acute Lymphoblastic Leukemia
- Optimization of optical genome mapping for prenatal diagnosis (ITF)
- Investigation on the repair mechanism and pathogenicity of chromosomal insertions (NSFC)
Principal Investigator:
Professor Choy Kwong Wai, Richard
- Professor, Department of Obstetrics and Gynaecology, CUHK
Junior Principal Investigators:
Professor Dong Zi Rui, Elvis
- Assistant Professor, Department of Obstetrics and Gynaecology, CUHK
Professor Cao Ye
- Research Assistant Professor, Department of Obstetrics and Gynaecology, CUHK
Professor CHAU Hoi Kin, Matthew
- Research Assistant Professor, Department of Obstetrics and Gynaecology, CUHK
Research Team Member
Research Staff
- Kenneth Wong, Research Associate
- Mengmeng Shi, Postdoctoral Fellow
- Jicheng Qian, Research Associate
- Ting Liu, Research Assistant
- Ying Chui Ching, Medical Laboratory Technician II
- Tsz Yeung Kwok, Medical Laboratory Technician II
- Edward HO, Medical Laboratory Technologist
Research Students
- Chung Cheuk Yan, PhD student
- Yuting Zheng, PhD student
- Yujie Zhu, PhD student
- Mingyang Yu, PhD student
- Jia Zheng, PhD student
- Jasmine Yan Tung Law, Undergrad student researcher
Related Publications
Selected Publications
- Zhou Z, Tan C, Chau MHK, Jiang X, Ke Z, Chen X, Cao Y, Kwok YK, Bellgard M, Leung TY, Choy KW, Dong Z. TEDD: a database of temporal gene expression patterns during multiple developmental periods in human and model organisms. Nucleic Acids Res. 2023 Jan 6;51(D1):D1168-D1178.
- Chung CY, Pan DJ, Paracchini S, Jiang W, So HC, McBride C, Maurer U, Zheng M, Choy KW. Dyslexia-related loci are significantly associated with language and literacy in Chinese-English bilingual Hong Kong Chinese twins. Hum Genet. 2023 Oct;142(10):1519-1529
- Cao Y, Luk HM, Zhang Y, Chau MHK, Xue S, Cheng SSW, Li AM, Chong JSC, Leung TY, Dong Z, Choy KW, Lo IFM. Investigation of Chromosomal Structural Abnormalities in Patients With Undiagnosed Neurodevelopmental Disorders. Front Genet. 2022 Apr 14;13:803088.
- Dong Z, Chau MHK, Zhang Y, Yang Z, Shi M, Wah YM, Kwok YK, Leung TY, Morton CC, Choy KW. Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics. Genet Med. 2021 Jul;23(7):1225-1233.
- Liang Q, Gu W, Chen P, Li Y, Liu Y, Tian M, Zhou Q, Qi H, Zhang Y, He J, Li Q, Tang L, Tang J, Teng Y, Zhou Y, Huang S, Lu Z, Xu M, Hou W, Huang T, Li Y, Li R, Hu L, Li S, Guo Q, Zhuo Z, Mou Y, Cram DS, Wu L. A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA). J Mol Diagn. 2021 Sep;23(9):1195-1204.
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