Whole Exome Sequencing

Whole Exome Sequencing

Service Description

For many applications, Whole Exome Sequencing is gaining popularity as a viable and cost-effective alternative for Whole Genome Sequencing. BGI has performed professional sequencing services for many years at multiple locations globally, to support biomedical research and to benefit small and large-scale clinical trials and other projects in pharmaceutical drug development.

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
  • 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 Whole Exome 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 or KAPA Hyper Prep kit for library construction and enrichment
    • Raw data and bioinformatics analysis are available in standard file formats
    • Advanced and custom bioinformatics data analysis available
    • Cloud-based data storage and delivery syste
  • Sequencing Quality Standard

    Sequencing Quality Standard

    • Guaranteed ≥ 80% of bases with quality score of ≥Q30
    • Standard sequencing coverage ≥50X; ≥150X is recommended for cancer samples
  • Turn Around Time

    Turn Around Time

    • Typical 40 working days from sample QC acceptance to filtered raw data availability.
    • 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 and single cell applications from human and rodents, with the following general requirements:

DNA concentration

Minimum sample volume

Regular Samples

Intact genomic DNA ≥ 1µg, Concentration ≥ 12.5 ng/ µl

15 μl

Low Input Samples

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

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

Exome 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.