Whole genome resequencing

For different individuals or group from the whole human genome sequencing, and on the basis of the difference analysis was carried out on the individual or group.

Sample Type
DNA sample
Sample Volume
≥ 1 μg DNA
Delivery cycle
30 Days (Urgent service available)

Service Introduction


Human whole genome sequencing is to determine the complete DNA sequence of human's genome at a single time, which generates large number of single nucleotide polymorphism loci (SNP), insertion/deletion (InDel), structure variations (SV), copy number variations (CNV).

It provides much information for screening disease related genes to promote the development of medical technology.



Sample QC

Library construction


Data QC

Data analysis




HiSeq X, PE150


30X, 50X or more



Basic analysis


Data quality control: filtering out reads containing adapters or with low quality


Alignment with reference genome, statistics of sequencing depth and coverage


SNP/InDel/CNV/SV/CNV calling, annotation and statistics

Advanced Analysis

  • 1Screening for predisposing genes
  • 2Mutation spectrum & mutation signature analyses
  • 3Screening for known driver genes
  • 4Analyses of tumor significantly mutated genes
  • 5MRT high frequency mutation association analysis
  • 6Analysis of copy number variations (CNV)
  • 7Fusion gene detection (for WGS porject only)
  • 8LOH distribution analysis
  • 9Purity & ploidy analyses of tumor samples
  • 10Tumor heterogeneity analyses
  • 11Tumor evolution analysis
  • 12Display of genomic variants with Circos

Monogenic disorders
  • 1Variant filtering
  • 2Analysis under dominant/recessive model
  • 3Functional annotation of candidate genes
  • 4 Pathway enrichment analysis of candidate genes
  • 5Regions of homozygosity (ROH) analysis
Complex/multifactorial disorders    
  • 1Variant filtering
  • 2Candidate gene mutation screening and function prediction
  • 3Functional annotation of candidate genes
  • 4De novo mutation analysis
  • 5Pathway enrichment analysis of candidate genes
  • 6Protein-protein interaction (PPI) analysis
  • 7Combining with the experimental design for genetic analysis
  • 8Association analysis of candidate gene mutual exclusion
  • 9Other personalized analysis
Immediate consultation or appointment testing services
Please select
  • 受检者
  • 研究人员
  • 大夫
  • 其他

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