Abstract

Next-Generation Sequencing (NGS) for Mendelian Disease Diagnosis, Precision Medicine and Novel Disease-Causing Gene Discovery

Pei-Lung Chen, Associate Professor and Attending Physician, National Taiwan University Hospital

NGS has become much more affordable, which allows clinical applications of genome-scale data. In the near future, NGS, especially whole genome sequencing (WGS), will greatly reshape our view and practice of precision medicine. In this presentation, Dr. Pei-Lung Chen will share his experience in applying NGS to genomic medicine and clinical genetic testing at National Taiwan University Hospital during the latest years. Dr. Chen will start from panel-based NGS diagnosis, and end with WGS-based diagnosis. It is now clear that sequencing is only one perspective of a more complex story. Advanced genomics analysis, including standard bioinformatics pipeline and possible artificial intelligence (AI)-assisted approaches, promises better outcome of clinical applications as well as precision medicine.