Single nucleotide variants and small insertions and deletions are detected with a high accuracy
Uniform coverage of the whole genome allows better identification of Copy Number Variants (CNVs) End-to-end validation pipeline

Detection of disease-causing variants in both coding and non-coding genes of the genome

Comprehensive evaluation of mitochondrial genome variants

Clear detailed reports that support informed decision-making

Unbiased genome-wide detection structural rearrangements (SVs) such as inversions and
balanced translocations

Detection of variants that could have been missed by targeted sequencing and microarray
techniques

Possibility to revisit in the later years for new and evolving clinical presentations