Whole Exome Trio analysis enables the simultaneous examination of approximately 20,000 genes to detect genetic changes such as Single Nucleotide Variants (SNVs), Insertions or Deletions (Indels), and Copy number variations (CNVs). This approach involves sequencing a family trio (typically the patient and both biological parents), which significantly improves the ability to identify the genetic cause of disease by correlating variants with familial inheritance patterns. It enhances the accuracy of variant calling and enables comprehensive analysis across all modes of inheritance, including autosomal recessive, autosomal dominant, and de novo variants.
