Targeted sequencing offers unique insights into specific regions of interest in the genome. It is a powerful application for investigating a variety of disease areas, such as oncology, inherited diseases, immunology and infectious diseases. This application allows targeting of specific genes, coding regions, even segments of chromosomes with precision and efficiency.
Targeted sequencing is more cost-effective than whole genome sequencing (WGS). It also enables deeper analysis of results than WGS and other survey approaches. In addition, it allows for deeper sequencing, and the depth of coverage helps in avoiding false interpretations of sequencing data. Because of this sensitivity, targeted sequencing provides tremendous advantage in variant calling in cancer research, identification of disease-associated mutations, single gene disorders and in gene expression studies. Targeted sequencing of specific regions also enables the discovery of causative genes for rare diseases. The focused approach of targeted sequencing provides the possibility of its use in targeted therapy applications and in personalized medicine efforts. For example, targeted resequencing of the polymorphic human leucocyte antigen (HLA) gene helps in HLA typing, which is crucial for matching in hematopoietic stem cell or solid organ transplantation.