Exome Sequencing: Genome Sequencing Focusing on Exonic Regions

Abstract

While whole genome sequencing (WGS) remains costly and requires intensive labor and elaborate analytical tools for assembly, whole exome sequencing (WES) is relatively cheaper and easier. Compared to WGS, WES can be considered as an efficient approach when the protein-coding regions are the only concern, because this type of sequencing focuses on the exon regions and its desired sequencing depth can be easily reached. WES is frequently confused with transcriptome analysis because both types of libraries contain solely the exonal sequences. However, the former is generated from genomic DNA fragments, while the latter from expressed mRNA molecules. Readers are asked to distinguish the differences between these two libraries beforehand.

Keywords: Whole exome sequencing, WES, Whole genome sequencing, WGS.

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