Perhaps the most widely used targeted sequencing method is exome sequencing. The exome (the protein-coding region of the human genome) represents less than 2% of the genetic code, but contains ~85% of known disease-related variants,1 making whole-exome sequencing a cost-effective alternative to whole-genome sequencing.
Exome sequencing can efficiently identify coding variants across a wide range of applications, including population genetics, genetic disease, and cancer studies.
Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. Sequencing only the coding regions of the genome enables researchers to focus their resources on the genes most likely to affect phenotype, and offers an accessible combination of turnaround time and price. Exome sequencing detects variants in coding exons, with the capability to expand targeted content to include untranslated regions (UTRs) and microRNA for a more comprehensive view of gene regulation. DNA libraries can be prepared in as little as 1 day and require only 4–5 Gb of sequencing per exome.
Illumina sequencing by synthesis (SBS) chemistry is the most widely adopted NGS technology, generating approximately 90% of global sequencing data.*
In addition to industry-leading data quality, Illumina offers integrated exome sequencing workflows that simplify the entire process, from library preparation to data analysis and biological interpretation.
Click on the below to view products for each workflow step.
Cost-effective library preparation and exome enrichment solution with industry-leading accuracy.TruSeq Rapid Exome Kit
Fast library preparation and exome enrichment kit accommodating low input amounts.Nextera Rapid Capture Custom Enrichment Kit
Custom assay for enriching genomic regions of interest, with add-on functionality.
Targets exons in 4,813 genes with known disease associations, providing one workflow for multiple assays.Library Prep Kit Selector Library Prep Kit Selector
Determine the best kit for your needs based on project type, starting material, and method or application.Exome Comparative Table
Find the right Illumina library preparation kit for your exome sequencing project and application.
Focused power to sequence targeted regions or 1 human exome per run.NextSeq Series
Flexible power to sequence up to 9 human exomes per run.
Performs targeted resequencing using BWA, the community’s most popular algorithm for alignment, and GATK for variant calling.Isaac Enrichment App
Performs targeted resequencing using fast and accurate Isaac algorithms for alignment and variant calling.VariantStudio App
Leverages leading annotation databases and a powerful filtering interface for rapid identification of disease-associated variants.
Associates single gene or list of genes with annotation data for pathways, diseases, tissues, and small molecules.BaseSpace Cloud or Onsite
The Illumina genomics computing environment for NGS data analysis and management.NextBio Research
A growing library of curated genomic data to support researchers in identifying disease mechanisms, drug targets, and biomarkers.
Sequencing the cancer exome provides useful information about the coding mutations that contribute to tumor progression. By sequencing less than 2% of the genome, it is possible to sequence to higher depth more economically. Learn more about cancer exome sequencing.
Whole-exome sequencing of individuals or trios is a common approach to finding causal variants in cases of rare, complex, or Mendelian disorders. Genetic association and linkage studies provide insights into complex diseases through common genetic variants shared between many individuals. Learn more about causal variant discovery.
Exome sequencing is increasingly being applied in translational and clinical settings to understand the role of genetics in human disease. Learn more about translational research.
Nat Commun 6 59732015View Summary
Nat Genet 2014View Summary
Nat Genet 46 438-432014View Summary
*Data calculations on file. Illumina, Inc., 2015