Targeted Region Sequencing

Target Region Sequencing focuses on a subset of genes or specific regions of the genome. It is an effective approach to investigate selected region(s) of interest. By utilizing targeted region sequencing panels, single -nucleotide polymorphisms (SNPs), insertions/ deletions (InDels), copy number variations (CNVs), and structural variants (SVs) could be identified.

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 with a large amount 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.

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

Bio Basic Asia Pacific employs Illumina HiSeq and Novaseq instruments to provide the fast and accurate targeted region
sequencing and bioinformatics analysis. Our highly experienced experts executes quality management, following every
procedure to ensure high quality results.

Sequencing Platforms

HiSeq 4000 / HiSeq X Ten / NovaSeq 6000

For more information and quotation, kindly contact us at

Bioinformatics Analysis

  • Data Quality Control
  • Alignment with reference genome
  • SNP/InDel calling, statistics, and annotation
  • Somatic SNP/InDel calling, statistics, and annotation
(More analysis upon request)


  • Focuses on regions of interest, generating a smaller, more manageable data set
  • Reduces sequencing costs and data analysis burdens, especially for large amount of samples.
  • High depth (500-1000X, or higher), allowing identification of rare variants.
  • Detection of SNPs/ InDels/ CNVs/ SVs
  • Discovery of germline or somatic mutations
  • Detection and quantification of rare variants and low-frequency alleles
  • Linkage analysis for inherited diseases
  • Discovery of biomarkers and therapeutic targets

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