Whole Genome Sequencing (WGS)
Analyses the entire genome covering not only the coding regions but also the non-coding regions which detect the non-coding variants, like intergenic and intronic pathogenic variants.
Features of our test
- Single nucleotide variants (SNVs)
- Insertions and deletions (Indels)
- Structural variants (SVs)
- Copy number variants (CNVs)
- Repeat expansions
- Mitochondrial DNA (mtDNA) variants
- FFPE Tissue
- DNA Samples
PacBio HiFi reads let you accurately detect all types of variants, from single nucleotide to structural variants, with high precision and recall and phase haplotypes, even in hard-to-sequence regions of the genome.