Whole Genome Sequencing

Whole Genome Sequencing

Service Description

WGS determines the complete human genome sequence and provides the most comprehensive collection of an individual’s genetic variation based on the human reference genome.

WGS can be applied to human genetics and evolution studies to detect genome-wide genetic variations, pathogenic and susceptibility genes, and to enable genetic diversity and evolution analysis. WGS is also applied in translational research to provide information on cancer and disease-associated mutations and is one of the most important approaches of precision medicine.

BGI offers a comprehensive range of WGS services for many sample types, coverage levels and sequencing strategies to meet your specific research need.

Rapid WGS service

10 Business day guaranteed turnaround time is now available for customers who are working in time-sensitive settings where fast access to high quality whole genome data is critical.

Choice of Platforms

BGI Human Whole Genome Sequencing services are executed with our DNBseq™ sequencing technology for the best, low duplication rate sequencing data at the lowest cost in the industry.

Sequencing with other platforms, including the Illumina NovaSeq, is available,

DNBseq™ Human Whole Genome Sequencing is available from $600 and includes

  • Sample QC, library construction and sequencing.
  • High quality 30X, PE100 data delivered in standard .fastq format.
  • Multiple bioinformatics options available.

To experience our DNBseq WGS services, and to find out why so many scientists trust their valuable samples to the world-class sequencing experience of BGI, Request a No Obligation Quote!

 

Applications

Project Workflow

We care for your samples from the start 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
  • Library Construction
  • Sequencing
  • Raw Data Output
  • Bioinformatics Analysis

How to order

Send us a no obligation request for quote and your BGI representative 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 Human Genome Sequencing Services are performed with BGI’s DNBseq sequencing technology, featuring DNA Nanoballs, linear Rolling Circle Replication and cPAS technology for superior data quality.

  • Sample Preparation and Services

    Sample Preparation and Services

    • Choice of PCR and PCR-free library preparation for True PCR-Free WGS
    • Choice of 100bp or 150bp paired end sequencing
    • Choice of sequencing depth: standard (~30x), deep (~60x) and low pass (less than 10x)
    • Raw data, standard and customized bioinformatics analysis available
    • Available data storage and bioinformatics applications
    • CAP/CLIA laboratory services available
  • Sequencing Quality Standard

    Sequencing Quality Standard

    • Guaranteed ≥80% of bases with quality score of ≥Q30
  • Turn Around Time

    Turn Around Time

    • Typical 30 working days from sample QC acceptance to filtered raw data availability
    • Rapid WGS services are available, as fast as 10 working day turnaround time for groups of 4 samples. Contact your BGI account representative for more details

DNBseq Sequencing Technology

DNBseq is an innovative high-throughput sequencing solution, developed by BGI’s Complete Genomics subsidiary in Silicon Valley. The system is powered by combinatorial Probe-Anchor Synthesis (cPAS), linear isothermal Rolling-Circle Replication and DNA Nanoball (DNB™) technology, followed by high-resolution digital imaging.

The combination of linear amplification and DNB technology reduces the error rate while enhancing the signal. The size of the DNB is controlled in such a way that only one DNB is bound per active site on the flow cell. This densely patterned array technology provides optimal sequencing accuracy and increases flow cell utilization.

Data Analysis

In addition to clean data output, BGI offers a range of standard and customized bioinformatics pipelines for your human WGS project.

Reports and output data files are delivered in industry standard FASTQ, BAM and Excel formats with publication-ready tables and figures.

Standard Bioinformatics 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

Custom Analysis

Further customization of Bioinformatics analysis to suit your unique project is available: Please contact your BGI technical representative.

Sample Requirements

We can process your gDNA, saliva, blood, fresh frozen tissue, cell pellets and FFPE samples, with the following general requirements:

DNA Amount and Concentration

Minimum Sample Volume

Regular Samples for PCR Libraries

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

15 μl

Low Input Samples for PCR Libraries

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

15 μl

Regular Samples
for True PCR-Free Sequencing

Intact genomic DNA ≥2μg
Concentration ≥2.5ng/μl

15 μl

Data Performance

Stable and High-Quality

2,206 Samples were randomly selected from over 20,000 samples that were sequenced at BGI’s laboratories over a period of 6 months. The data output and data quality remained stable over that period. The average Q20 and Q30 scores were 96.78% and 88.81% respectively. The average GC content was 41.25% without obvious base bias.

 

Significantly Lower Duplication

The sequencing data was analyzed for duplication and compared in the plot below, showing the significantly lower duplication rate from the DNBseq platform.
To generate the following performance data, the human genome standard NA12878 was sequenced with the Illumina NovaSeq and DNBseq sequencing platforms at PE150, using PCR and PCR-Free libraries.

 

High SNP Calling Performance

The sequencing data was analyzed for SNP calling precision and sensitivity in the plot below.

Higher InDel Calling Performance

The sequencing data was analyzed for InDel calling and shows the precision and sensitivity gains from True PCR-Free DNBseq sequencing in the plot below.

WGS Resources

Read or download Human Whole Genome Sequencing documentation and data. Don't find what you need right away? Please contact your local BGI representative.

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