Target Region Sequencing

Target Region Sequencing

Service Description

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

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.

Request a Quote

Send us a no obligation request for quote and our dedicated sales team will reply to you within 24 hours.

Create an Online myBGI Account

Create a myBGI account to view all our sample and shipping documentation and to manage your project moving forwards. It's quick, free and easy!

Sequencing Service Specification

BGI Target Region Sequencing services are executed with the Illumina HiSeq 4000 sequencing system.

  • Sample Preparation and Services

    Sample Preparation and Services

    • 100bp and 150bp paired-end sequencing options available
    • Agilent SureSelect, NimbleGen SeqCap kits for library construction and enrichment
    • Raw data and bioinformatics analysis data delivery in standard file formats
    • Cloud-based data storage and delivery system
    • Advanced and custom bioinformatics data analysis available
  • Sequencing Quality Standard

    Sequencing Quality Standard

    • Guaranteed ≥ 80% of bases with quality score of ≥Q30
    • Standard sequencing coverage ≥100X; ≥300X is recommended for cancer samples
  • Turn Around Time

    Turn Around Time

    • Typical 40 working days from sample QC acceptance to filtered raw data availability
    • Contact your local BGI specialist about lead times for custom capture kits
    • Expedited services are available, contact your local BGI specialist for details

Sample Requirements

We can process your gDNA, Blood, Cell line, Fresh frozen tissue, FFPE samples from human and rodents, with the following general requirements:

DNA Mass and Concentration

Minimum Sample Volume

Regular Samples

Intact genomic DNA ≥ 2µg,
Concentration ≥ 20 ng/ µl

15 μl

Low Input Samples

Intact genomic DNA ≥ 200 ng,
Concentration ≥ 2.5 ng/ µl

15 μl

Data Analysis

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.