Targeted Resequencing for Rare Diseases


Targeted resequencing offers the possibility to sequence regions of interest and interrogates known disease-causing genes that are appropriate to the phenotype. Our company is committed to providing customers with cost-effective targeted resequencing services to help customers detect and analyze their selected rare disease gene(s) of interest. Our complete solutions will help you obtain high-quality data and achieve publishable results for your research goals.

Targeted Resequencing

Targeted resequencing refers to the use of special probes to enrich the DNA or a specific sequence of the protein-coding region of interest, and then perform deep sequencing and data analysis of the target region through the targeted method of next-generation sequencing (NGS). This strategy greatly improves the research efficiency of target regions in the genome and significantly reduces research costs. Such targeted analysis includes the exome, specific genes of interest, and target regions in genes or mitochondrial DNA.

Targeted resequencing has proven promising in studying rare genetic variants in humans, achieving a sensitivity completely unattainable by whole-genome sequencing. Since targeted resequencing separates and enriches the target region of the gene before sequencing, the substantial reduction of the target region can achieve a sequencing depth of 5000× or even higher, which is very useful for the rapid screening of variant sites to explain the pathogenesis of rare diseases. At present, targeted resequencing for rare diseases has been widely used in many fields from basic research to diagnosis and application market, which is crucial for the continuous progress of precision healthcare.

Fig. 1 Methods of DNA-seq.Fig. 1 Methods of DNA-seq. (Bewicke-Copley F, et al., 2019)