Whole exome resequencing

In view of the genome sequenced all exons.

Sample Type
DNA Sample
Sample Volume
≥ 2 μg DNA
Delivery Cycle
30 Days (Urgent service available)

Service Introduction


Exome sequencing provides a cost-effective alternative to whole genome sequencing as it targets only the protein coding region of the human genome responsible for a majority of known disease related variants.

More economical and efficient.



Sample QC

Library construction


Data QC

Data Analysis






HiSeq、PE150/100X、200X or more

Data Analysis


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/SV/CNV calling, annotation and statistics


Somatic SNP/InDel/CNV testing, comments, and statistics.

Advanced Analysis

  • 1Screening for predisposing genes
  • 2Mutation spectrum & mutation signature analyses
  • 3Tumor evolution analysis
  • 4Display of genomic variants with Circos
  • 5MRT high frequency mutation association analysis.
  • 6Analysis of copy number variations (CNV)
  • 7Purity & ploidy analyses of tumor
  • 8LOH distribution analysis
  • 9Tumor heterogeneity analyses
  • 10Other personalized analysis

Monogenic disorders
  • 1Variant filtering
  • 2 Analysis under dominant/recessive model
  • 3 Functional annotation of candidate genes
  • 4Pathway enrichment analysis of candidate genes
  • 5Regions of homozygosity (ROH) analysis
Complex/multifactorial disorders    
  • 1 Variant filtering
  • 2Functional annotation of candidate genes
  • 3Pathway enrichment analysis 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
  • 医生
  • 公司
  • 其他

You can dial400-158-5999 The hotline contact us, or fill in your contact information and concerns, we will contact you in time