Introduction of Next-Generation Sequencing and Its Application to the Diagnosis of Inherited Disorders

In the past eight years, next-generation sequencing (NGS) has been broadly adopted and used in many areas, including gene discovery and clinical testing in genetic medicine. NGS-based diagnostics testing for inherited disorders is now available in clinical molecular diagnostics laboratories and provide a powerful tool for searching disease-causing mutation(s). This presentation focuses on the utility of gene panels, exome and whole genome sequencing, assay validation, bioinformatics algorithm, and results interpretation.

Lecture Presenter
Rong Mao, MD, FACMG
Rong Mao, MD
Medical Director, Molecular Genetics and Genomics, ARUP Laboratories
Associate Professor of Pathology, University of Utah School of Medicine

Dr. Mao is the medical director of Molecular Genetics and Genomics at ARUP, and an associate professor of pathology and co-director of the Clinical Medical Genetics Fellowship Program at the University of Utah School of Medicine. Dr. Mao received her MD from Capital University of Medicine in Beijing, China and her MS in molecular pathology from Beijing Union Medical College. She is certified by the American Board of Medical Genetics, with a subspecialty in clinical molecular genetics, and by the New York State Department of Health, with a subspecialty in genetic testing.

Objectives

After this presentation, participants will be able to:

Describe methodology of next-generation sequencing.
Discuss processes, validation and use of gene panels, exome sequencing and whole genome sequencing.
Understand and appreciate the complexity of data created by next generation sequencing and results interpretation.