Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome. The human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants,1 making this method a cost-effective alternative to whole-genome sequencing.
Exome sequencing using exome enrichment can efficiently identify coding variants across a broad 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.
Regeneron Genetics Center researchers perform exome sequencing analysis on patient-consented data sets to identify relevant genetic associations.Read Article
A landmark NGS study identifying rare disease variants in infants led to a national clinical exome sequencing program in Singapore.Read Article
Researchers use exome sequencing, RNA sequencing, and other NGS methods in their search for cancer-associated gene expression profiles.Read Article
A fast, integrated whole-exome enrichment and sequencing library preparation workflow for a wide range of applications.
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.
Push-button alignment, followed by variant calling of Illumina exomes to rapidly identify disease-associated variants.
Illumina sequencing by synthesis (SBS) chemistry is the most widely adopted next-generation sequencing (NGS) technology, generating approximately 90% of global sequencing data.*
Illumina offers whole-exome sequencing workflows that simplify the entire process, from exome enrichment and library preparation to sequencing, data analysis, and biological interpretation.
Click on the below to view products for each workflow step.
Nextera Flex for Enrichment uses a fast, user-friendly workflow. On-bead tagmentation chemistry is combined with a simplified, single hybridization protocol to reduce total workflow time.TruSeq DNA Exome
Cost-effective library preparation and exome enrichment solution that delivers exceptional target coverage over a broad range of read depths.Nextera DNA Exome
Fast library preparation and exome enrichment that accommodates low input amounts.
Targeted research panel for sequencing the protein-coding regions of the genome.TruSight One Sequencing Panels
Comprehensive panels targeting disease-associated regions of the exome with high analytical sensitivity and specificity.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.
Focused power to sequence targeted regions or 1 human exome per run.NextSeq 550 System
Flexible power to sequence up to 9 human exomes per run.HiSeq 4000 System
Production power to sequence up to 96 human exomes per run.
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.Platform Comparison Tool
Compare sequencing platforms and identify the best system for your lab and applications.Sequencing Reagents
Find kits that include sequencing reagents, flow cells, and/or buffers tailored to each Illumina sequencing system.
Performs targeted resequencing using fast and accurate Isaac algorithms for alignment and variant calling.BaseSpace Variant Interpreter
Leverages leading annotation databases and a powerful filtering interface for rapid identification of disease-associated variants.BaseSpace Integrative Genomics Viewer App
Associates single gene or list of genes with annotation data for pathways, diseases, tissues, and small molecules.
The Illumina genomics computing environment for NGS data analysis and management.BaseSpace Correlation Engine
A growing library of curated genomic data to support researchers in identifying disease mechanisms, drug targets, and biomarkers.Illumina DRAGEN Bio-IT Platform
The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of NGS data.
This method provides useful information about coding mutations associated with 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 is a common approach to finding causal variants in cases of complex disorders. Learn more about complex disease research.
Exome sequencing is increasingly being applied in translational and clinical settings to understand the role of genetic variants in human disease. Learn more about translational research.
NGS-based exome analysis can help researchers uncover variants linked to rare and undiagnosed disorders. Learn more about rare disease research.
*Data calculations on file. Illumina, Inc., 2015