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NameShu-Jui Hsu
Office phone number2312-3456 ext.88385
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Job titleAssistant Professor
Research expertiseHuman Genome, Statistical Genetics, Bioinformatics
Research DescriptionAs a bioinformatician and human geneticist, I am interested in utilizing computational approaches to tackle unresolved questions in biological mechanisms, especially in the field of human genomics. In this overall context, the application of next generation sequencing (NGS) technology for delineation of disease etiology is the major focus of my present research. To this end, we have been involved in the development of bioinformatic algorithms for the efficient integration of NGS data with phenotypic characterization of clinical patients. We collaborate extensively with clinicians on implementing these algorithms for the analysis of whole genome sequence (WGS) and whole exome sequence (WES) data obtained from clinical patients suffering from diseases, such as neurodegenerative disorders, pediatric cancer, and Mendelian disorders.

In general, there are three specific research interests in my laboratory:
1. Clinical NGS study design, data analysis, and molecular diagnostics
2. Development of bioinformatic algorithms for pathogenicity prioritization in human WGS/WES data based on genetic variations
3. Validation of genetic/bioinformatic algorithms by real world NGS data

Currently, we are using cohort data on diseases generated internally and Taiwan Biobank data to evaluate major DNA-seq analysis pipelines. By quantifying the robustness of each pipeline, we can standardize our analysis specifically for the Taiwanese population. In addition, we are examining the genetic profiles of Taiwanese individuals for the genes listed in the American College of Medical Genetics (ACMG) guidelines, which are considered clinical actionable. On the other hand, advances on the molecular diagnostics pipeline is envisioned to help us improve both bioinformatic algorithms in clinical settings and genetic diagnostics in the hospital.
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