Whole Exome And Whole Genome Sequencing For Diagnosis Of Genetic Disorders

Whole exome sequencing (WES) sequences the portion of the genome that contains protein-coding DNA, while whole genome sequencing (WGS) sequences both coding and noncoding regions of the genome. Whole exome sequencing and WGS have been proposed for use in patients presenting with disorders and anomalies not explained by a standard clinical workup. Potential candidates for WES and WGS include patients who present with a broad spectrum of suspected genetic conditions.