Targeted Region Sequencing

SeqInsight is providing the fast and affordable targeted region sequencing service which will greatly increase both the breadth and the depth of your genomics research.

The Introduction of Targeted Region Sequencing

Targeted region sequencing is an effective approach for investigating your selected region(s) of interest by next generation sequencing. By utilizing targeted region sequencing panels, you can discover single-nucleotide polymorphisms (SNPs), insertions/deletions (InDels), copy number variations (CNVs), and structural variants (SVs). Compared with whole genome sequencing, targeted region sequencing enables accurate detection of rare variants with higher sensitivity and specificity. This approach is very cost-effective when handling a large number of samples, which significantly reduces the cost per sample.

The process of targeted region sequencing includes probes/primers designing/synthesis, target regions capture, library construction, paired-end sequencing, and bioinformatics analysis based on target sequences. Specific probe/primer sets are designed to enrich targeted regions using either hybridization or amplification methods. In the hybrid capture method, biotinylated oligonucleotide probes are designed to target regions of interest within a DNA fragment library. After a hybridization incubation, streptavidin-coated magnetic beads are used to capture the biotinylated probe/target hybrids, which results in a library that is highly enriched for the targeted DNA. The current amplification method relies on multiplex PCR or some form of primer extension across regions of interest.

The targeted region sequencing has a wide range of applications, including:

  • Detection of SNPs/InDels/CNVs/SVs
  • Discovery of germline or somatic mutations
  • Detection and quantification of rare variants and low-frequency alleles
  • Linkage analysis

Advantages of Targeted Region Sequencing

  • Identification of variants at low allele frequencies (down to 1%).
  • A smaller data set for bioinformatics analysis.
  • Much lower cost with a large number of samples.
  • High depth (500-1000X, or higher), allowing identification of rare variants.

Targeted Region Sequencing Workflow

SeqInsight employs Illumina HiSeq instruments to provide the fast and accurate targeted region sequencing and bioinformatics analysis.  The general workflow for targeted region sequencing is outlined below.

Service Specifications

Sample requirements and preparation

•DNA amount ≥ 50 ng, DNA concentration ≥ 10 ng/μl, OD260/280=1.8~2.0.
• All DNA samples are validated for purity and quantity.


• HiSeq platforms PE150.
• Depth of coverage ≥ 100x; ≥ 500X is recommended for cancer samples.
• More than 80% of bases with a ≥Q30 quality score.

Bioinformatics Analysis

We provide customized bioinformatics analysis including:

• Raw data quality control
• Filtering and alignment
• SNP/InDel/CNV/SV calling and annotation
• More analyses upon your request

Analysis pipeline

SeqInsight provides full targeted region sequencing service package including sample standardization, probe/primer designing, targeted capture, library construction, deep sequencing, raw data quality control and bioinformatics analysis. We can tailor this pipeline to your research interest. If you have additional requirements or questions, please feel free to contact us.


* For Research Use Only. Not for use in diagnostic procedures.