EXOME SEQUENCING

 

The exome and untranslated regulatory regions (UTRs) comprise only 1-2% of the human genome, yet house as many as 85% of disease-related mutations. As a research tool, exome sequencing is a powerful way to investigate common and rare genetic variations that play an important role in complex human diseases.

GENEWIZ provides complete solutions for exome sequencing projects from experimental design through advanced bioinformatics analysis.

CLIA-compliant whole exome sequencing (WES) is also available for clinical researchers. 

 

Service Package

Standard Exome Sequencing service package includes:

• Library preparation and subsequent quality check
• Enrichment using Agilent™ SureSelect kits
• Illumina sequencing with 2x150 bp read mode
• 10M PE reads per sample (or multiples)
• Delivery of raw data FASTQ files 
• Quality report

Service Options

 Starting Material   Prior to library preparation
 Deliverables
 
Double-stranded gDNA



 

•Standard DNA analysis: Data QC, trimming, mapping of SNP and INDELs, intrachromosomal structural variant (SV) discovery

• Copy number variation (CNV) discovery



Other Sources*

gDNA extraction

 
Table 1: Starting material that can be accepted for Exome Sequencing services at GENEWIZ
 

*A wide range of starting materials can be accepted: FFPE samples, fresh frozen tissue, cell pellets etc. Visit our full list and Sample Submission Guidelines

 

Features and Benefits

Starting from one sample
Latest enrichment capture technology for uniform exome coverage
Flexible packages for 10M PE per sample (or multiples)
Superior data quality
Industry-leading turnaround time
Real time project updates
Comprehensive suite of bioinformatics solutions available
 
Dedicated Ph.D.- level Support Team at every project step

Exome Sequencing Workflow

  • Sample Submission
    1
  • Automated library preparation
    2
  • Sequencing using Illumina latest technology
    3
  • Raw data FASTQ files
    4

Applications

Discover relevant mutations across all coding regions
Conduct variant association studies
Profile multiple low-frequency genotypes at the population level
Determine important disease-related variations
Characterize genotype-phenotype relationship
Detect chromosomal rearrangement events

Need additional samples for your cohort study?

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NGS Platforms

GENEWIZ is a certified service provider for Illumina and Life Technology NGS platforms. For information on our NGS platforms as well as recommended configurations for your projects, please visit the NGS Platforms page. GENEWIZ does not guarantee data output or quality for sequencing only projects.