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Exome Sequencing


An Accessible, Cost Effective Sequencing Solution to Enable Rapid Discovery with Industry Leading Turnaround Times.

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 exome 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.

Besides raw sequencing data output, BGI offers standard and custom bioinformatics services to suit your specific research needs.

In addition to Human Exome Sequencing, we provide mouse exome sequencing service using Agilent Mouse All Exon kit and have developed a platform for sequencing the exome of monkeys based on our participation in the Chinese rhesus macaque and Cynomolgus macaque genome projects.

Sequencing Service Specification

BGI Whole Exome Sequencing services are executed with the Illumina HiSeq 4000 sequencing system.

Sample preparation and services

  • Agilent Sureselect, NimbleGen SeqCap or KAPA Hyper Prep kit for library construction and enrichment
  • 100bp and 150bp paired-end sequencing options available
  • Raw data and bioinformatics analysis are available in standard file formats
  • Advanced and custom bioinformatics data analysis available
  • Cloud-based data storage and delivery system

Sequencing Quality Standard
  • Guaranteed ≥ 80% of bases with quality score of ≥Q30
  • Standard sequencing coverage ≥50X; ≥150X is recommended for cancer sample
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:

BGI Whole Exome Sequencing sample submission table

Project Workflow and Data Analysis

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.

BGI Whole Exome sequencing workflow

Data Analysis

Besides raw data output, BGI offers a range of standard and customized bioinformatics pipelines for your exome sequencing project.

Reports and output data files are delivered in industry standard file formats: FASTQ, BAM, VCF, CNS and Excel.


BGI Whole exome sequencing data analysis

Download Application Note
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  •   Whole Genome Resequencing
      Exome Sequencing
      Target Region Sequencing
      de novo Sequencing
      RNA-Seq (Transcriptome)
      RNA-Seq (Quantification)
      Small RNA Sequencing
      Long Non-coding RNA Sequencing
      Whole Genome Bilsulfite Sequencing
      Reduced Representation Bilsulfite Sequencing
      MeDIP Sequencing
      16S rDNA tagging
      Wole Genome Metagenomic Sequencing
      Microbial Gene Catalog
      Proteomics Services
  •   Human
  •   Yes


Don’t hesitate to contact us to request a quote or to talk more about your requirements and how we can support your needs.

(+45) 80 300 800 (Europe)
(+1) 617 500 2741 (Americas)
(+852) 36103510 (Asia Pacific)
(+86) 755 25273698 (China)

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Customer Testimonial

“Knome has been working with BGI for well over three years. Specifically, BGI has been resequencing whole human genomes and exomes for us and it is work they perform exceedingly well. Partnering with BGI has been a positive experience for us and we highly recommend them.”
-Ari Kiirikki, VP of Knome

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