The genome represents the entire genetic information of an organism. Analyzing the whole genome using next-generation sequencing (NGS) technology provides the most comprehensive collection of an individual’s genetic information. By comparing the individual to a reference genome, variations can be studied. These alterations can include single-nucleotide variants (SNVs), small insertions and deletions (indels), copy-number variations (CNVs), and structural variants (SVs).
Whole genome sequencing (WGS) studies contribute to:
- Cancer studies, personalized medicine approaches, translational research
- Discovery of biomarkers and understanding pharmacogenetics
- Disease research
- Plant and animal breeding programs
- Examination of microorganisms