Clinical Applications of Whole Genome Sequencing

Whole genome sequencing (WGS) is a powerful diagnostic tool that can be used in a number of clinical scenarios. During this presentation the benefits and limitations of whole genome sequencing will be discussed along with several case examples that illustrate how this tool can be applied clinically.

Lecture Presenter
Hunter Best, PhD, FACMG
Hunter Best, PhD, FACMG
Professor (Clinical), University of Utah School of Medicine
Operations Platform Director, NGS; Medical Director, Molecular Genetics and Genomics, ARUP Laboratories

Dr. Best is a professor (clinical) of clinical pathology at the University of Utah School of Medicine. He received his PhD in molecular and cellular pathology at the University of North Carolina at Chapel Hill and completed a fellowship in clinical molecular genetics at Vanderbilt University in Nashville. His research focuses on the genetics of pulmonary arterial hypertension.

Objectives

After this presentation, participants will be able to:

Describe how massively parallel sequencing differs from traditional sequencing methods
Explain the difference between rapid whole genome sequencing and standard whole genome sequencing
Identify how whole genome sequencing is used clinically in suspected genetic disease diagnosis
Recognize the benefits and limitations of whole genome sequencing