Personal Reference Genome Service Project
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.
New tech revolution
30 X Nanopore Sequencing
100 X Bionano DLS
100 X Illumina 10X
HD SNP Array
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)
The PRGSP based on third-generation sequencing and single-molecule optical mapping platform will rely on ultra-long reads.
Thus, a high-quality diploid individual reference genome will be obtained.
Then , genetic variations can be analyzed based on personal reference genome.
Finally, all these data and results are combined to form a "personal full spectrum variation set."
Price (per sample)
Other countries around the world
Establish a human reference genome database to improve the entire process of sequencing, analysis and reporting.
Comprehensive application to newborn screening, genetic disease diagnosis, pre-pregnancy screening and health management.
How to Order
E-mail : firstname.lastname@example.org
Tel : 400-651-6230 (Beijing, China)