Target Region Sequencing focuses on a subset of genes or specific regions of the genome. Targeted gene capture combined with NGS has the advantages of significant cost saving, higher sequencing accuracy due to deeper coverage and a smaller data set for easier bioinformatic analysis. Target region sequencing enables population studies and routine clinical applications.
BGI provides target region sequencing with a complete solution including custom panel design based on regions or genes of interest, hybridization or PCR -based capture of target regions, sequencing and bioinformatics analysis.
BGI also provides pre-defined panels that contain cancer-associated genes, human MCH regions and genetic diseases-related genes.
Applications
Germline variant detection
Somatic variant detection
Associating DNA variants with a phenotype, such as a disease
Structural variant discovery
Copy number variation
Discovering biomarkers and therapeutic targets
Project Workflow
We care for your samples from the start through to the result reporting. Highly experienced laboratory professionals follow strict quality procedures to ensure the integrity of your results.
Sample QC
Library QC
Sequencing QC
Data QC
Sample Preparation
Exome Capture Library Preparation
Sequencing
Raw Data Output
Bioinformatics Analysis
How to order
We care for your samples from the start through to the result reporting. Highly experienced laboratory professionals follow strict quality procedures to ensure the integrity of your results.
In addition to raw data output, BGI offers a range of standard and customized bioinformatics pipelines for your whole genome sequencing project.
Standard Analysis
Filtering
Alignment
SNP calling and annotation
SNP validation and comparison
SNP functionality and conservation prediction
SNP statistics per functional element
InDel calling and annotation
InDel validation and comparison
InDel statistics per functional element
CNV calling and annotation
SV calling and annotation
Available advanced analysis
Cancer Somatic Mutation analysis
Population genetics analysis
Complex disease analysis
Mendelian disease analysis
De novo mutation analysis for family samples
Customized analysis
Further customization of Bioinformatics analysis to suit your unique project is available: Please contact your BGI technical representative
Target Region Sequencing Resources
We care for your samples from the start through to the result reporting. Highly experienced laboratory professionals follow strict quality procedures to ensure the integrity of your results.