Whole Genome vs Exome Sequencing
What is the Difference Between the Whole Genome and the Exome?
The complete genomic information within a sample or individual is known as the whole genome. Exons are the genome's protein-coding regions and are collectively known as the exome. Despite the exome's relatively small proportion of the whole genome (approximately 2%), exomes encode most known disease-related variants.
When to Use Whole-Genome or Whole-Exome Sequencing
Use
When you need to:
Whole-genome sequencing
- Analyze the whole genome, including coding, non-coding, and mitochondrial DNA
- Discover novel genomic variants (structural variants, single nucleotide variants, insertions and deletions, and copy number variants)
- Identify previously unknown variants for future targeted studies
Whole-exome sequencing
- Increase throughput capabilities
- Optimize cost per sample
- Analyze manageable data sets and maximize data storage
Whole-Genome vs. Whole-Exome Sequencing Infographic
Explore the benefits of both approaches to understand which method is best for your research.
Download InfographicFeatured Webinars
Integrating Whole-Genome and Exome Sequencing
Discover how Dr. Kristen Brennand integrates whole-genome and exome sequencing with transcriptome and epigenetic data to help identify neuropsychiatric disease pathways.
Whole-Genome Sequencing Comes of Age
Dr. Liz Worthey discusses how whole-genome sequencing is gaining momentum for precision medicine to improve future clinical care.
Featured Sequencing Articles
Why Researchers Chose Whole-Genome Sequencing
Read how whole-genome sequencing can capture important information in the nucleosome to reveal genes that drive metastatic cancers.
When to Combine Whole-Genome and Exome Sequencing
See how combining whole-genome and exome sequencing can yield important insights into variants related to autoimmune disorders such as lupus.
Scale Up to Whole-Genome Sequencing with the DRAGEN Bio-IT Platform
Learn how adopting the DRAGEN Bio-IT Platform can help you scale up your whole-genome sequencing needs with accuracy and reliability.
Related Solutions
Whole-Genome Sequencing
Read more about how a comprehensive view of the genome enables efficient discovery of important variants and novel genome assembly.
Exome Sequencing
When whole-genome sequencing is not needed, explore how exome sequencing can provide a cost-effective and more accessible way to manage data for quicker analysis.
Next-Generation Sequencing
Discover how the power of next-generation sequencing (NGS) can reveal genomic and transcriptomic information in a scalable and high-throughput format.
Illumina solutions for genetic and rare disease
Unlock the power of the genome with Illumina NGS solutions. Explore our integrated products, systems, and workflows to make your next genomic discovery.
Download BrochureFeatured Products
Illumina DNA Prep
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
Illumina DRAGEN Bio-IT Platform
Perform accurate, ultra-rapid secondary analysis of sequencing data.
NovaSeq 6000
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.