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| Biography |
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Dr. Stephanie Yu is an Assistant Professor (Clinical) in the Department of Chemical Pathology. She obtained her medical degree and PhD in Chemical Pathology from the Chinese University of Hong Kong. She is a Fellow of the Royal College of Pathologists of Australasia.
Her research focuses on the biology and clinical applications of cell-free DNA. During her doctoral studies, she co-developed a novel size-based approach for noninvasive prenatal detection of fetal chromosomal aneuploidies and subchromosomal abnormalities. This approach demonstrated synergy with conventional count-based analysis and has since been incorporated into clinical noninvasive prenatal testing (NIPT) services.
More recently, Dr. Yu identified a substantial population of long cell-free DNA molecules using third-generation sequencing technologies. Building on this discovery, she has developed innovative diagnostic approaches for single-gene disorders and preeclampsia, advancing the field of liquid biopsy and its clinical translation.
In addition to her research, Dr. Yu is actively involved in undergraduate and postgraduate teaching in chemical pathology and medical genetics, and is committed to integrating research advances into clinical practice.
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| Specialized Research Area(s): |
| 1. Noninvasive prenatal molecular diagnostics |
| 2. Liquid biopsy applications in pregnancy-related complications |
| 3. Noninvasive molecular diagnostics for cancer |
4. Biology of circulating nucleic acids |
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Selected publications: |
| Yu SCY, Lo YMD. Biological Insights from Cell-Free DNA Methylome Analysis in Preeclampsia. Clin Chem. 2024;70(6):789-791 |
| Yu SCY, Deng J, Qiao R, Cheng SH, Peng W, Lau SL, Choy LYL, Leung TY, Wong J, Wong VW, Wong GLH, Jiang P, Chiu RWK, Chan KCA, Lo YMD. Comparison of Single Molecule, Real-Time Sequencing and Nanopore Sequencing for Analysis of the Size, End-Motif, and Tissue-of-Origin of Long Cell-Free DNA in Plasma. Clin Chem. 2023;69(2):168-179. |
Gai W, *Yu SCY (co-first author), Chan WTC, Peng W, Lau SL, Leung TY, Jiang P, Chan KCA, Lo YMD. Droplet digital PCR is a cost-effective method for analyzing long cell-free DNA in maternal plasma: Application in preeclampsia. Prenat Diagn. 2023;43(11):1385-1393. |
Yu SCY, Choy LYL, Lo YMD. 'Longing' for the Next Generation of Liquid Biopsy: The Diagnostic Potential of Long Cell-Free DNA in Oncology and Prenatal Testing. Mol Diagn Ther. 2023;27(5):563-571. |
Yu SCY, Chan KCA. What is the Importance of Analyzing Tumor Tissues and Blood Cells in the Study of Circulating Tumor-Derived DNA? Clin Chem. 2022;68(12):1481-1483. |
Yu SCY, Jiang P, Peng W, Cheng SH, Cheung YTT, Tse OYO, Shang H, Poon LC, Leung TY, Chan KCA, Chiu RWK, Lo YMD. Single-molecule sequencing reveals a large population of long cell-free DNA molecules in maternal plasma. Proc Natl Acad Sci U S A. 2021;118(50):e2114937118. |
Yu SCY, Jiang P, Chan KCA, Faas BH, Choy KW, Leung WC, Leung TY, Lo YMD, Chiu RW. Combined count- and size-based analysis of maternal plasma DNA for noninvasive prenatal detection of subchromosomal aberrations facilitates elucidation of the fetal and/or maternal origin of the aberrations. Clin Chem. 2017;63:495-502. |
Yu SCY, Chan KCA, Zheng YWL, Jiang P, Liao GJW, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RWK, Lo YMD. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A. 2014;111:8583-8588. |
Yu SCY, Lee SW, Jiang P, Leung TY, Chan KCA, Chiu RWK, Lo YMD. High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing. Clin Chem. 2013;59:1228-1237. |
Yu SCY, Jiang P, Choy KW, Chan KCA, Won HS, Leung WC, Lau ET, Tang MH, Leung TY, Lo YMD, Chiu RWK. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 2013;8:e60968. |
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