Why Whole Genome Sequencing is Better than Whole Exome Sequencing for Rare Diseases

WGS improves diagnostic yield over WES from 10% to 100%* due to the fact that WGS captures both coding and non-coding regions of the genome. Although WGS currently costs roughly 1.5 to 2 times more than WES—it often yields a higher diagnostic rate, reducing downstream testing and speeding time to diagnosis. In addition, WGS is shown to have a better error rate when sequencing the exome.

Here are some handy articles to read about the comparison:

PNAS: Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

Nature*: Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray

Archives of Public Health: Whole genome sequencing diagnostic yield for pediatric patients with suspected genetic disorders

JAMA: Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders