Exome Sequencing


The exome represents less than 2% of the human genome, but contains ~85% of known disease-causing variants, making whole-exome sequencing a cost-effective alternative to whole-genome sequencing.

With exome sequencing, you can investigate the protein coding regions of the genome when sequencing an entire genome is not practical or necessary. It can efficiently identify variants across a wide range of applications, including population genetics, genetic disease, and cancer studies.

Illumina offers comprehensive exome sequencing solutions, from library preparation to data analysis.

Library Preparation for Exome Sequencing

Our exome enrichment and sequencing kits include Nextera Rapid Capture Exome, an integrated solution for library preparation and exome enrichment of up to 96 samples in only 1.5 days. These kits deliver comprehensive coverage of expertly selected exonic content. Choose the format that best fits your studies and add custom content for specific regions of interest.

Whole-Exome Sequencing Systems

Illumina sequencers deliver industry-leading accuracy, enabling you to confidently identify true coding variants. Within the Illumina sequencing ecosystem, you can scale projects to sequence from one to hundreds of exomes per run.

  • For sequencing dozens to hundreds of exomes per run, the HiSeq 2500 System offers the highest-throughput sequencing solution.
  • As the first high-throughput desktop sequencer, the NextSeq 500 Sequencing System offers flexible configurations that support up to 12 exomes per run.
  • The MiSeq System offers a robust solution optimized for targeted panels and can sequence a whole human exome in a single run.

Exome Sequencing Data

Our exome sequencing data analysis solutions include the BaseSpace genomics computing environment. BaseSpace removes much of the complexity from the typical informatics workflow without requiring extra analysis equipment. BaseSpace offers apps for exome analysis, as well as a large collection of apps for data visualization, downstream analysis, and sharing.

For Research Use Only.

Whole-Exome Sequencing for Cancer Research

Cancer exome sequencing enables you to take a closer look at cancer-associated variants frequently found within exonic regions.

Exome Sequencing with NextSeq


See how the NextSeq 500 System provides an integrated whole-exome sequencing solution.
Access PDF ยป

Next-Generation Sequencing Technology

New to NGS? See how you can gain insight into the genome with next-generation sequencing.