The Rapidly Emerging Role for Whole Exome Sequencing in Clinical Genetics

Abstract

Sequencing of the exome, the protein-coding region of the human genome, has quickly grown into a new approach for clinical diagnosis of disease. Enabled by next-generation sequencing technologies, clinical exomes accompanied by clinical interpretation of the genome variants are used today to guide health care providers in understanding and diagnosing their patient’s disease. Continuing improvement in both sequencing technology and exome approaches, as well as interpretation of the variation identified, will be required to fully realize the power of this new science. This review provides a glimpse into the value and complexities we all face in this quest.