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Targeted Region Sequencing

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CD Genomics own extensive experience to offer comprehensive target region sequencing services to help you obtaining full information of the selected targets in a cost-effective manner, which can greatly increase both the breadth and the depth of your genomics research.

Target Region sequencing

Target region sequencing is an effective approach for investigating your selected region(s) of interest by next generation sequencing. By utilizing targeted sequencing panels, you can discover SNPs, insertions/deletions (INDELS), copy number variations (CNVs), and gene rearrangements with high sensitivity and specificity, enable accurate detection of rare variants. Target sequencing is most cost effective when handling with a large amount of samples, which significantly reduces the cost per sample. 

The process of targeted sequencing includes probes/primers designing, target region capture enrichment, DNA or amplicon fragmentation, pair-end sequencing and bioinformatics analysis based on target sequences.

CD Genomics offers a complete target sequencing solution from assay design to advanced bioinformatics analysis through two different options. One is to use capture kits to pull down the selected target regions by probe hybridization. Another strategy to be employed is utilizing a primer design to amplify the regions of interest through long PCR or multiplex PCR and subsequently sequence the amplicons, which is ideally suited for looking at smaller and hyper-variable genomic regions.

We use commercial capture panels and customized targeted panels provided by Agilent, Nimblegen and CD Genomics, which can capture up to 20M base pairs and conduct the sequencing for your specific projects, aiming to enable maximum utilization of the NGS platform by making the deepest genetic analysis compared to WGS or WES. We are happy to assist you designing your project exclusively and pay special attention.

Target Region sequencing

Recommended Sequencing Depth:

Mean depth of coverage: ≥ 250x

Sample Requirement

Genomic DNA from various sources such as blood, tissue, diverse pathogenic microorganisms, and others. The recommended DNA amount for submission is 2 µg or more with a concentration of ≥ 50 ng/µl.

Data Analysis

Our bioinformatics pipeline includes comparison with reference data, comparison statistics, variation detection and annotation (SNP/InDel/CNV).


  • Discover germline or somatic mutations
  • Detect and quantify rare variants
  • Detect low-frequency alleles
  • Transgenes flanking sequencing
  • TILLING analysis
  • High-throughput genotyping
  • Linkage analysis for inherited diseases
  • Validation of mutations

Features and Benefits:

  • Ultra-high resolution: give the deep and precise sequencing of the selected regions and highest sensitive detection with minimal off-target reads
  • Comprehensive services: from target selection, panel or primer design, enrichment, library construction, sequencing to bioinformatics analysis
  • Cost effective: much lower cost with large amount of samples while pooling samples is possible
  • Flexibility: extensive multiplexing flexibility, target both continuous and discrete regions from any sources
  • Custom-tailored: design each project exclusively and custom bioinformatics analysis from well-experiences, Ph.D.-level scientists for your specific research purposes

Our targeted sequencing service provides project consultation and experimental design including candidate targeted region evaluation and selection, and then we conduct sequencing exclusively on targeted genomic regions or a pre-defined panel of genes in large cohort of samples. As an alternative to whole genome sequencing, our targeted region sequencing enables you to hunt for your variants of interest in pre-selected genomic regions or to validate a set of candidate hits in large cohort of samples in a cost-effective way.

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