Impact of Next-Generation Whole-Exome sequencing in molecular diagnostics

A Nayarisseri, M Yadav, M Bhatia, A Pandey… - Drug Invention …, 2013 - Elsevier
Abstract Next-Generation Sequencing technology provides remarkable opportunities to
characterize personal or individual genome sequencing and to identifying mutations
relevant for disease diagnosis and therapy. The Whole-Exome sequencing using Next-
Generation Sequencing (NGS) is promoting popularity in the human genetics community
due to the reasonable costs, feasible data quantity and forthright interpretation of analysis
results. This review discusses methods and the challenges in the analysis of NGS data and …
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