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  • Writer's pictureSinead Mackintosh

Hot topics: Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS).

They are two commonly used techniques in genomics to analyse genetic information.

WES is a targeted sequencing approach focusing on only the genome's protein-coding regions (where the known genes are), which comprise ±1-2% of the entire genome. WES can be helpful in identifying genetic changes that are known to cause disease, such as single nucleotide variants (SNVs), insertions, deletions, and copy number variations (CNVs), in the coding regions of genes.

On the other hand, WGS aims to sequence the entire genome, including both coding and non-coding regions. This approach allows for the analysis of not only the exome, but also other elements. WGS can provide a broad view of an individual's genome and enable the identification of genetic changes that may not be found using WES.

Comparing WES and WGS, WGS is generally more expensive and generates a larger amount of data than WES. However, WGS allows for more comprehensive genome analysis and can identify variants in non-coding regions that may impact gene expression or regulation. On the other hand, WES is a more targeted approach that can be more cost-effective and efficient for identifying genetic variants in protein-coding genome regions.

Overall, the choice between WES and WGS depends on the specific research question or clinical application and the available resources.

In South Africa, the only access to WES and WGS is in limited research settings. But some fantastic clinical applications have solved rare diseases and even discovered new genes! I will review an excellent paper about this soon, so stay tuned!

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