We see whole genome sequencing (WGS) as the standard of genomic diagnostic care, and are working to make whole genome testing broadly accessible to patients with rare genetic diseases.
Why whole genome sequencing? It provides the most comprehensive view of an individual’s genome. Unlike panels and exome sequencing which target specific regions comprising 1.5% or less of an individual’s DNA, WGS covers the entire known genome, including the mitochondrial genome. It enables identification of single nucleotide variants, indels and structural variants, including CNVs and tandem repeats, in data from a single sequencing run.
