臨床および医療生化学

概要

Evaluation of Next Generation Sequencing Platforms for Whole Exome Variant Analysis

Gopi Vyas*, Tanushree Tiwari, Aditya Mehta, Maulik Patel, Hemant Gupta, Arpita Ghosh and Surendra KC

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.