Whole Genome Sequencing (WGS) Analysis- Trio
Definition
This is simultaneous whole genome sequencing of the proband and both parents; it covers the entire coding and non-coding regions of the genome and screens for single nucleotide variants, structural variants, and mitochondrial variants. As with WES-trio, the trio design allows confirmation of de novo variants and offers additional diagnostic yield in families without a diagnosis after exome sequencing.
Method
Next Generation Sequencing, CNV Analysis
Accepted sample types
EDTA Blood
Description
The entire genome is mapped along with CNVs. All exon and intron regions are analyzed. Performed together with a family study (mother, father, and the affected individual). This test is applied to patients with a negative WES result or for the most detailed single investigation of genetic diseases of unknown cause. Whole genome sequencing includes CNV analyses but does not include the mitochondrial genome. Analyzes genetic and de novo changes inherited from the mother and father.
Inheritance
Studied in a germline context; the trio design clarifies the de novo/inherited variant distinction, and mitochondrial (maternal) variants can also be detected in the same analysis.