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

When you need to:

Whole-Genome Sequencing

  • Analyze the whole genome, including coding, non-coding, and mitochondrial DNA
  • Discover novel genomic variants (structural, single nucleotide, insertion-deletion, copy number)
  • 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.

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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.

Featured Webinars

Whole-Genome Sequencing in Clinical Care

Learn how whole-genome sequencing is gaining momentum for precision diagnosis to improve future clinical care.

Merging Whole-Genome and Exome Sequencing

Discover how Dr. Kristen Brennand incorporates whole-genome and exome sequencing to reveal complex disease pathways and phenotypes in neuropsychiatric disease.

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.

Whole Genome Sequencing Rare Disease Brochure Cover Image

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.

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Featured 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.