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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 .
In some versions of the protocol, the probe-release site (commonly a restriction site) is cleaved by restriction enzymes such that the probe becomes linearized. In this linearized probe the universal PCR primer sequences are located at the 5’ and 3’ ends and the captured genomic target becomes part of the internal segment of the probe.
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.
Whereas the methods above describe various sequencing methods, separate related terms are used when a large portion of a genome is sequenced. Several platforms were developed to perform exome sequencing (a subset of all DNA across all chromosomes that encode genes) or whole genome sequencing (sequencing of the all nuclear DNA of a human).
The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify genetic variations. Genome sequencing became more cost-effective over time, and made it applicable in the medical field, allowing scientists to understand which genes are attributed to specific diseases.
Whole exome sequencing is a brute-force approach that involves using modern day sequencing technology and DNA sequence assembly tools to piece together all coding portions of the genome. The sequence is then compared to a reference genome and any differences are noted.
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]
He also co-authored a handbook on exome sequencing and analysis for clinicians. [37] The GUaRDIAN consortium includes over 250 clinicians and researchers from over 70 medical and research centers making it one of the largest clinical genomics research networks in India working in the area of Rare Genetic Diseases. [38]
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