ExomePlus 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) at a >1 exon level. The approach involves sequencing a family trio (typically the patient and both biological parents). By correlating variants with familial inheritance patterns can significantly improve our ability to identify the genetic cause of a disease. It enhances the accuracy of variant calling and enables comprehensive analysis across all modes of inheritance, including autosomal recessive, autosomal dominant, and X-linked. The analysis is also capable of identifying de novo mutations and ruling out chromosomal abnormalities.
