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Exome sequencing workflow: part 1. Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins.
Due to this increase in accessibility, high throughput DNA sequencing has become more widely used in research and clinical settings. [4] [5] Some common areas that utilize high throughput DNA sequencing extensively are: Whole Exome Sequencing, Whole Genome Sequencing (WGS), and genome wide association studies (GWAS). [6] [7]
Whole-exome sequencing is a recent technology that has led to the discovery of various genetic disorders and increased the rate of diagnoses of patients with rare genetic disorders. Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30–50% of patients who were thought to have rare Mendelian disorders.
A single-end sequence is usually quicker to produce, cheaper than paired-end sequencing and sufficient for quantification of gene expression levels. Paired-end sequencing produces more robust alignments/assemblies, which is beneficial for gene annotation and transcript isoform discovery. [10]
The classical shotgun sequencing was based on the Sanger sequencing method: this was the most advanced technique for sequencing genomes from about 1995–2005. The shotgun strategy is still applied today, however using other sequencing technologies, such as short-read sequencing and long-read sequencing .
Exome sequencing utilizes exome capture to acquire the protein coding regions of the genome. It is unbiased, however, it will not yield off target mutations in the non-coding region of the genome. In case of whole genome sequencing, the entire genome is screened for off target mutations. Currently, this method is expensive and like exome ...