Dr. Li, Ling-Hui 李玲慧 博士


Dr. Li, Ling-Hui
李玲慧 博士

Research Scientist

  • Ph.D, State University of New York at Stony Brook, USA

  • 02-2789-9078 (Lab) (Room No: N618)
  • Cancer Genomics
  • Human Molecular Genetics


Genome-wide SNP genotyping is a valuable tool for the identification of genes related to disease susceptibility and adverse drug reactions. One of my duties as a research scientist is to ensure the quality of whole genome SNP genotyping service provided by the National Center for Genome Medicine at Academia Sinica. In addition to these routine services, I am actively involved in technological R&D to maximize the utility of SNP genotyping array data. First, I collaborated with statisticians to develop analysis tools to detect interesting genomic features which have not yet been covered by commercial analysis tools. The most recently developed software, ALICE, is awarded the Minister of Science and Technology prize of “2018 Future Tech”. Second, I collaborated with physicians to apply SNP genotyping technology for detecting copy number variation/alteration in neuropsychiatric diseases, induced pluripotent stem cell lines and cancers. Third, I participated in the development of customized Axiom array plates including TPM (TWB2.0) and TPM2 that are designed for genetic study focusing on the Han Chinese residing in Taiwan.

The focus of my research work is to discover the genetic factors and microbes contributing to the malignant transformation of colorectal adenoma to colorectal carcinoma (CRC).​​​​​​​ We have identified several candidate tumor-related genes by integrative analysis of genomic and transcriptomic data. Among them, SKA3 at chromosome 13q was identified as a novel gene in promoting malignant transformation of CRC. Overexpression of these genes may lead to higher chromosomal instability (CIN) in tumors and render them prone to malignant transformation. Currently, we are investigating the underlying mechanisms of these genes contributing to tumorigenesis and progression of CRC. We will also evaluate whether the candidate genes can serve as biomarkers for diagnosis and/or disease monitoring. With 16S rRNA sequencing of paired tissue samples from patients with CRC, we observed that the relative abundance of several microbes was higher in cancerous tissues than in paired adenomas and normal colon tissues. The interactions among these microbes and host and the tumorigenesis mechanisms induced by these interactions will be the focus in the next few years.