Whole Exome Sequencing (WES) and CNV Analysis- Trio
Definition
In addition to exome sequencing of the proband and both parents, this trio analysis also detects copy number variations using read-depth based algorithms from the same NGS data. Parental data allows direct determination of whether both point mutations and CNVs are de novo or inherited, increasing diagnostic accuracy; in cases of fetal anomaly and neurodevelopmental disorder, it markedly increases diagnostic yield compared to single analysis.
Method
Next Generation Sequencing, CNV Analysis
Accepted sample types
EDTA Blood
Description
Analyzes exons and exon-intron junction regions along with CNVs across ~22,000 gene regions. Includes analysis of the mother, father, and the affected individual as a trio. In addition to WES, it also examines exon-level copy number changes (CNVs) in genes in detail. Analysis depth is 200X coverage. Provides detailed investigation of genetic diseases of unknown cause. 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 distinction for both point mutations and CNVs.