Service Description:
Target Region Sequencing focuses on a subset ofgenes 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 beidentified. 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:
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
Omics Drive 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.
Advantages of Targeted Region Sequencing:
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.
Sequencing Platforms:
HiSeq 4000/HiSeq X Ten/NovaSeq 6000
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)
Analysis Flow:
