CD GENOMICS

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) . Whole exome sequencing is a genomic technique for sequencing the exome (all protein-coding genes). It is widely used in basic and applied research, especially in the study of Mendelian diseases. You can read the article  principle and workflow of whole exome sequencing  to know more about WES. A typical...

What is RNA-Seq? Regulation of gene expression is fundamental to link genotypes with phenotypes. RNAs shape complex gene expression networks which drive biological processes. An in-depth understanding of the underlying mechanisms about how to govern these complex gene expression networks is vital for the treatment of complex disease such as cancer. Hybridization-based microarrays are used to allow the simultaneous monitoring of expression levels of annotated genes in cell populations. However, genome-wide approaches are proved to provide more valuable insights into transcriptomes. These next/third sequencing platforms allow the rapid and cost-effective generation of massive amounts of sequence data. The RNA profiling by utilizing high-throughput sequencing technologies are known as  RNA-seq . What are the applications of RNA-Seq? Since RNA-seq is quantitative, it is useful to determine RNA expression levels. In addition to this basic function, RNA-seq can be used for differe...