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.

Workflow

 

Sample QC

Library construction

Sequencing

Data QC

Data analysis

Parameters

 

Plateform

HiSeq X, PE150

Depth

30X, 50X or more

Data analysis

 

Basic analysis

1

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

2

Alignment with reference genome, statistics of sequencing depth and coverage

3

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

Advanced Analysis

Cancer
  • 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
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  • 受检者
  • 研究人员
  • 医生
  • 公司
  • 其他

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