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.

Workflow

 

Sample QC

Library construction

Sequencing

Data QC

Data Analysis

Parameters

 

Platform

Agilent/NimbleGen

Platform/Depth

HiSeq、PE150/100X、200X 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/SV/CNV calling, annotation and statistics

4

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

Advanced Analysis

Cancer
  • 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
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  • 医生
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