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Human Whole Genome Sequencing


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

Service Description

Whole genome sequencing detects the complete human genome sequence at one time and provides the most comprehensive collection of an individual’s genetic variation based on the human reference genome. The microarray-based genotyping studies have gradually moved to whole genome sequencing with the falling costs of sequencing technology.

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

Sequencing Service Specification 

BGI Human Whole Genome Sequencing services are executed with the Illumina HiSeq X-ten sequencer.

Sample preparation and services

  • 150bp paired end sequencing
  • Raw data, standard and customized data analysis
  • Cloud-based data storage and delivery system

Sequencing Quality Standard

  • Guaranteed ≥75% of bases ≥Q30
  • Standard sequencing coverage ≥30X; ≥60X is recommended for cancer samples

Turn Around Time

  •  Typical 40 working days from sample QC acceptance to filtered raw data availability

Sample Requirements

We can process your gDNA, Blood, Cell line, Fresh frozen tissue and FFPE samples and single-cell applications, with the following general requirements:

BGI sample requirements - human_whole_genome_sequencing_graphic2-01

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 - human whole genome sequencing workflow


Data Analysis

In addition to raw data output, BGI offers a range of standard and customized bioinformatics pipelines for your whole genome sequencing project.

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

BGI - human whole genome sequencing data analysis

Download Application Note
Request a Quote

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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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