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Mining Coding Regions with Whole-Exome Sequencing

Multiple next-generation sequencing (NGS) techniques offer insights into health and disease.




The human genome contains roughly three billion base pairs, but only 1-5% of these encode functional proteins. Although whole-genome sequencing (WGS) provides rich information about single nucleotide, structural, or copy number variants across the genome, it is time- and resource-intensive. Thus, scientists who study mutations in coding regions or in subsets of specific disease-associated genes often rely on targeted NGS panels. Options for targeted panels include exome panels for whole-exome sequencing (WES) as well as more precise, custom-designed panels.

Download this ebook from The Scientist's Creative Services team and Roche to discover

  • The differences between WGS, WES, and custom panels
  • How to overcome sequencing challenges with WES and custom panels
  • How WGS, WES, and custom panel NGS workflows differ
  • The clinical applications of WES