Abstract
Exome analysis is potentially a cost effective approach for detecting mutations in human body. It is preferred widely over WGS (Whole Genome Sequencing) since it focuses upon the coding and functional variants of the human genome. There are several platforms involved in whole exome sequencing, but the relative study of the same sample on two widely used exome sequencing platforms is taken into consideration here. The results of this study demonstrate the systematic evaluation of two widely used sequencing platforms. However, it reported accuracy of ~98% in terms of SNPs predicted by both the platforms, infact the number of SNPs exclusively falling into exonic region were found to harmonize inspite of the initial difference in raw SNP calling step.
Highlights
The advancement of Next-Generation Sequencing (NGS) technology facilitates analysis of millions of DNA sequences in a single run
A total of 84,855,147 paired end reads from Illumina and 29,281,484 single end reads of Ion Torrent platforms were filtered resulting in 56,952,387 and 21,182,754 PE and SE reads respectively
These high quality reads were mapped on respective chromosomes using Qualimap (Supplementary Data Table 2) [19], it was seen that Ion torrent had more percent of mapped reads as compared to Illumina but at the same time the mapping coverage (Supplementary Data Tables 3 and 4), mapping quality of Illumina was considerably greater than that of Ion torrent data
Summary
The advancement of Next-Generation Sequencing (NGS) technology facilitates analysis of millions of DNA sequences in a single run. This has led to generation of ample amount of raw data which needs to be analyzed to gain meaningful results. Exome sequencing provides a more cost effective approach where only the protein coding regions of a genome is utilized to find mutations which are found to be the prime cause of various common human diseases. Exome Sequencing involves the target selection using one of several enrichment products; each of which aims to produce a DNA sample where the content is made up of the protein coding and regulatory regions of the genome. It may not lead to 100% capture of the region of interest but helps in identification of the major mutations in a sample
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