Targeted Region Sequencing Services

At N2Jenomics Lab Pvt. Ltd., we provide reliable and cost-effective Targeted Region Sequencing services for focused genomic analysis. Using advanced Illumina Next-Generation Sequencing (NGS) platforms, we deliver high-depth sequencing of selected genomic regions, enabling accurate variant detection while reducing sequencing costs and data complexity.

What is Targeted Region Sequencing?

Targeted Region Sequencing is an NGS-based approach that selectively sequences specific genes or genomic regions of interest. Compared with whole genome sequencing, this method offers deeper coverage, improved sensitivity for detecting rare variants, and a more economical solution for studies involving large sample numbers.

Our workflow utilizes custom-designed probes or primers to enrich target regions through hybrid capture or multiplex PCR, followed by high-throughput sequencing and comprehensive bioinformatics analysis.

Applications

Targeted Region Sequencing is widely used for:

• • Detection of SNPs, InDels, CNVs, and structural variants (SVs)

• • Germline and somatic mutation analysis
• • Identification of rare genetic variants and low-frequency alleles
• • Inherited disease and linkage studies
• • Biomarker discovery and precision medicine research
• • Clinical and translational genomics

Key Advantages

• • High-depth sequencing for enhanced variant detection
• • Accurate identification of low-frequency mutations
• • Reduced sequencing cost compared to whole genome analysis
• • Faster data analysis with targeted datasets
• • Scalable and cost-effective for large sample cohorts

Our Workflow

Our end-to-end Targeted Region Sequencing workflow ensures high-quality and reproducible results:

• Sample quality assessment

• Custom probe or primer design

• Target enrichment by hybrid capture or multiplex PCR

• Library preparation

• Illumina paired-end sequencing

• Bioinformatics analysis and variant identification

• Comprehensive data reporting

Our experienced genomics and bioinformatics teams follow stringent quality control measures throughout every stage, ensuring accurate, reliable, and research-ready sequencing results.

Service Specifications

	Sample Requirements DNA amount ≥ 10 ng, DNA concentration ≥ 1 ng/μl, OD260/280=1.8~2.0. All DNA samples are validated for purity and quantity. Note: Sample amounts are listed for reference only. For detailed information, please contact us with your customized requests.
	Sequencing Strategies HiSeq platforms PE150, MGI DNBSEQ-T7/DNBSEQ-G400. 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 Cancer somatic mutation analysis Complex disease analysis Mendelian disease analysis De novo mutation analysis for family samples DMR annotation and enrichment analysis (GO/KEGG) More analyses upon your request Note: Recommended data outputs and analysis contents displayed are for reference only. For detailed information, please contact us with your customized requests.

Analysis Pipeline

Deliverables

• • The original sequencing data
• • Experimental results
• • Data analysis report
• • Details in Targeted Region Sequencing for your writing (customization)

1. How is Targeted Region Sequencing different from Whole Exome Sequencing (WES)?

Whole Exome Sequencing analyzes all protein-coding regions (exons) of the genome, whereas Targeted Region Sequencing focuses only on user-selected genes or genomic regions. This targeted approach provides deeper coverage, higher sensitivity, and a more cost-effective solution for specific research objectives.

2. What samples are required for Targeted Region Sequencing?

We accept a wide range of sample types, including genomic DNA, tissue, blood, PCR amplicons, cultured cells, bacterial colonies, FFPE tissue, and swab samples. To design the assay, simply provide your target gene list or genomic coordinates, and our team will manage target enrichment, library preparation, sequencing, and bioinformatics analysis.

3. What is the typical turnaround time?

Turnaround time depends on the project design and whether custom probes are required. Projects involving custom target panels generally take longer due to probe design and optimization, while commercially available panels can significantly reduce the overall processing time.

4. How are sequencing variants confirmed?

Variants identified through Targeted Region Sequencing can be validated using additional sequencing approaches, such as Sanger sequencing or repeat NGS analysis, depending on the project requirements. Validation helps ensure the accuracy and reliability of detected genetic variants.