2020-12-21 20:40 The advent of next-generation sequencing (NGS) has greatly accelerated genomics research, which produces millions to billions of sequence reads at a high speed. Currently, available NGS platforms include Illumina, Ion Torrent/Life Technologies, 454/Roche, Pacific Bioscience, Nanopore, and GenapSys. They can produce reads of 100-10,000 bp in length, enabling sufficient coverage of the genome at a lower cost. But faced with the enormous amount of sequence data, how do we best deal with them? And what are the most appropriate computational methods and analysis tools for this purpose? In this review, we focus on the bioinformatics pipeline of whole exome sequencing (WES).
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