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.
Investigate the protein-coding regions of the genome with this comprehensive workflow solution.
Explore the benefits of both approaches to understand which method is best for your research.
Explore comprehensive workflow solutions for whole-exome sequencing including world-class support from Illumina.
In addition, learn more about whole-exome sequencing for rare diseases.
Download BrochureExome 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 ArticleWhole-exome and RNA sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.
Read ArticleRead how researchers perform cancer WES from tumor biopsy samples to better understand the tumor onset and progression, identify biomarkers, and predict response to therapeutic interventions.
Read Customer SpotlightA fast, integrated whole-exome enrichment and sequencing library preparation workflow for a wide range of applications.
Expand or enhance Exome coverage with a custom spike-in panel designed for your targets of interest.
A highly sensitive library preparation solution to detect low-abundance mutations from cell-free DNA samples.
A sensitive and comprehensive whole-exome sequencing solution for detecting low-frequency variants from FFPE (formalin-fixed, paraffin-embedded) samples.
Our most powerful sequencer for ultra-high-throughput projects, featuring up to 16Tb output and 26 billion single reads per flow cell.
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.
Determine the best kit for your needs based on project type, starting material, and method or application.
Learn more about the Library Prep and Array Kit SelectorIllumina DRAGEN secondary analysis was developed to address important challenges associated with analyzing NGS data for a range of applications, including exome as well as genome, transcriptome, methylome studies, and more. This software suite rapidly processes NGS data and enables tertiary analysis to drive insights. The available tools make up a highly accurate, comprehensive, and efficient solution that enables labs of all sizes and disciplines to do more with their genomic data.
Learn More About DRAGENScientists discuss how DRAGEN pipelines and Illumina Connected Analytics helped them analyze exome sequencing data as well as whole-genome, transcriptome, and metagenome data for a chronic obstructive pulmonary disease (COPD) research project.
Illumina benchtop sequencing systems are making NGS technology more accessible to laboratories worldwide. Learn how these systems provide the speed, power, and flexibility to make breakthroughs in microbiology, cancer research, and more. The MiSeq i100 Series or NextSeq 1000 and NextSeq 2000 Systems can help make your NGS research goals within reach.
Download eBookSeek out a best-in-class next-generation sequencing company with user-friendly bioinformatics tools and industry-leading support and service. See the evidence.
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.
Achieve cost-effective, accurate, and sensitive RNA exome analysis of even difficult samples without sacrificing gene fusion discovery power. Learn more about RNA exome capture sequencing.
NGS-based exome analysis can help scientists uncover variants linked to rare and undiagnosed disorders. Learn more about rare disease genomics.
Exome sequencing helps researchers identify variants for an array designed for ADHD, autism, and schizophrenia studies.
Explore user-friendly tools for intuitive analysis of DNA sequencing data.
Researchers use exome sequencing, arrays, and other methods to identify gene variants linked to intellectual disability.
Download this Application Note to see a streamlined exome sequencing workflow for germline CNV analysis, from library preparation to insights using Illumina DNA Prep with Exome 2.5 Enrichment.
In this interview, Dr. Irina Iordanescu, the coordinator of the Regina Maria Genetic Center Laboratory, explains how NGS enhanced assays such as whole-exome sequencing and targeted sequencing panels for pediatric genetic disease testing and oncology. Read more to discover how she used NGS to speed up and expand sample processing while reducing costs.
*Data calculations on file. Illumina, Inc., 2015