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.

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.