Next-Generation Sequencing and Sequence Data Analysis

Author(s): Kuo Ping Chiu

DOI: 10.2174/9781681080925115010013

Exome Sequencing: Genome Sequencing Focusing on Exonic Regions

Pp: 84-87 (4)

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Abstract

SHS investigation development is considered from the geographical and historical viewpoint. 3 stages are described. Within Stage 1 the work was carried out in the Department of the Institute of Chemical Physics in Chernogolovka where the scientific discovery had been made. At Stage 2 the interest to SHS arose in different cities and towns of the former USSR. Within Stage 3 SHS entered the international scene. Now SHS processes and products are being studied in more than 50 countries.

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.

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