Whole Genome Sequencing (WGS) is a highly sensitive, specific, and comprehensive genetic test that analyzes the entire human genome, encompassing both the protein-coding regions (exons) and the non-coding regions (introns). This provides a complete view of an individual’s genetic makeup.
WGS utilizes an advanced pipeline to detect a wide range of genetic variations, including Single nucleotide variants (SNVs), Insertions and Deletions (Indels), Structural Variants (SVs) (including Copy Number Variations or CNVs), Uniparental Disomy (UPD), and chromosome-level UPD events. The technique can also be used for mitochondrial genome sequencing and deletion analysis.
