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个人简介
I obtained my MSc and Ph.D. degrees from The Chinese University of Hong Kong (CUHK) as a clinical bioinformatician. I received further training for data interpretation of balanced chromosomal structural variants and single-gene disorders under the mentorship of Prof. Cynthia Morton in Harvard Medical School. In addition, I was also trained for copy-number variants interpretation and cytogenetics from Prof. Saw Wai Cheung at Baylor College of Medicine. Currently, I am taking charge of the next-generation sequencing platforms in prenatal diagnosis center in Department of Obstetrics and Gynaecology, CUHK. My main interests include development and clinical implementation of low-pass (or low-coverage) whole-genome sequencing (WGS) assay for identifying copy-number variants and chromosomal structural rearrangements (i.e., balanced translocations and inversions) in human diseases. Currently, I and the team have moved on the study to a high read-depth whole-genome sequencing based approach aiming for identification and interpretation of single-nucleotide variants, copy-number variants and chromosomal structural rearrangements in one single assay. In the field of development and implementation of WGS, I have published more than 10 refereed indexed articles in world-leading journals and presented in various international conferences.
研究兴趣
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Advanced materials (Deerfield Beach, Fla.)pp.e2405858-e2405858, (2024)
arxiv(2024)
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medRxiv (2023): 4-4
Genesno. 7 (2023): 1357-1357
Frontiers in Cell and Developmental Biology (2023): 1209320-1209320
Journal of Assisted Reproduction and Geneticsno. 1 (2023): 1-14
Elsevier eBookspp.721-741, (2023)
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