● Single-nucleotide and multinucleotide variants (SNVs and MNVs)
● Small insertion-deletions (in/del) of up to 50 nucleotide pairs
● Gene copy number variations (CNVs) such as deletions/microdeletions and duplications/microduplications of various sizes
● Sites of loss of heterozygosity and uniparental disomy
● Variants in mitochondrial genome with >5% heteroplasmy detection
● Balanced chromosomal changes with breakpoint detection (with restrictions)
● Expansion of tandem repeats in 37 genes (with limitations)

Unlike other studies, WGS determines the presence of all variants not only in coding regions of the genome (exons) but also in non-coding regions (introns, non-translated regions, intergenic regions), which account for up to 5% of pathogenic genetic variants.