Personal Reference Genome Service Project

New standard



PRGSP aims to apply multiple innovative technologies including Oxford Nanopore, Bionano Saphyr, Illumina, 10X Genomics and high-resolution SNP arrays to each individual human subject, and assemble a phased diploid personal reference genome. Meanwhile, genetic variations including SNPs, InDels, SVs, STR and methylations will be cataloged. The project will redefine the global technical standards of "whole genome sequencing (WGS)" , heralding that the era of personal reference genome is forthcoming.


 Sequencing Strategy

New tech revolution 


30 X   Nanopore Sequencing

100 X   Bionano DLS

100 X   Illumina 10X

HD SNP Array


Whole Variations(WV)

Make undiagnosised diagnosis


1.SNPs (single nucleotide polymorphism)

2.InDels (small insertions and deletions)

3.SVs/CNVs(structure variations/copy number variations)

4.STR (simple tandem repeats)

5.Methylation ( 5mC/ 4mC/ 6mA)

6.Haplotype (diploid genome)


 Project Workflow

The PRGSP based on third-generation sequencing and single-molecule optical mapping platform will rely on ultra-long reads.  


  1.  The data of Oxford Nanopore can be assembled to obtain contig with high integrity.
  2.  De novo Bionano DLS whole genome sequence motif optical maps will be generated based on ultra-long single molecules, the haploid-aware chromosomal arm length maps will be used to scaffold, phase and correct sequence contig errors using Bionano's hybrid assembly pipeline. 
  3.  Some "local sequence" errors of the "personal " reference genome will be corrected with Illumina data.
  4. " SNP" phasing is performed combined with 10X genomics technology data, thus obtaining a high-quality diploid individual reference genome.

Thus, a high-quality diploid individual reference genome will be obtained.


Then , genetic variations can be analyzed based on personal reference genome.


  1. The data of Illumina will be for the analysis of SNPs / InDels.
  2. The data of Oxford Nanopore will be for the analysis of SVs/STR/Methylation.
  3. The data of Bionano will be for the analysis of "large" SVs including balanced chromosomal lesions ( >500 bps).
  4. SNP array data and Bionano data will be for validation of the above variations.

Finally, all these data and results are combined to form a "personal full spectrum variation set."



  1. Diagnosis of genetic diseases
  2. Screening of pre-pregnancy carriers
  3. Early screening of tumors
  4. Understanding human evolution and personal characteristics





Price (per sample)


100,000 RMB

Other countries around the world

20,000 dollars



  1. Phase 1(2 to 3 years): 10K  Samples(10 thousand people)


Establish a human reference genome database to improve the entire process of sequencing, analysis and reporting.


  1. Phase II(3 to 10 years):10M  Samples(10 million people)


Comprehensive application to newborn screening, genetic disease diagnosis, pre-pregnancy screening and health management.



How to Order

E-mail :

Tel : 400-651-6230 (Beijing, China)