Whole Exome Sequencing

Overview – Introduction to exome sequencing

Exome sequencing is used to efficiently detect common single-nucleotide variants (SNVs) across a broad spectrum of applications. These applications include population, translational and cancer studies, as well as for identification of rare genetic variants that are presumably responsible for complex genetic diseases, such as Mendelian disorders.

Exome sequencing has swiftly gained acceptance and its use is currently expanding at a faster rate than that of any other targeted sequencing method. Sequencing the protein-coding part of the genome enables researchers to focus only on the genes where many disease-related variants have been localised. The method produces less data than whole-genome approaches do, making data management more feasible, while maximising the benefit in terms of the ratio of the amount of information versus resources, turnaround time and cost.

Many years of experience and active involvement in a large number of acknowledged, publicly funded research projects have given Eurofins Genomics vast experience in exome sequencing. We have developed proprietary and fully automated Eurofins Genomics production standards for target enrichment libraries, optimising balanced target coverage. All of our next generation sequencing services, including exome sequencing, are ISO 17025 accredited and ISO 13485 certified to make accurate sequencing data available for use in molecular diagnostics.

 
Applications – Advantages of exome sequencing

• Exome sequencing is ideal if you want to:
• Target variants and mutations in protein-coding regions
• Obtain in-depth coverage of exons
• Focus on the genes most likely to be involved in phenotype-affecting mutations
• Investigate rare variants  and determine the variations of all coding regions without bias
• Enhance interpretability and diagnostic value of sequencing results
• Analyse numerous samples with fast turnaround times
• Reduce resources in data processing, management and Analysis

Workflow – Exome sequencing methods & technologies

Applying a streamlined library-preparation workflow that uses an optimised protocol in combination with the latest enrichment technologies produces a cost-efficient, reliable library structure and improves coverage of hard-to-capture regions during target enrichment. Eurofins Genomics uses Illumina technology for sequencing. Multiplex options make it possible to process numerous samples in parallel. Eurofins Genomics’ exome sequencing is produced according to diagnostic standards (ISO 17025).
In addition, Eurofins Genomics offers a complete exome-sequencing solution that maximises flexibility and convenience to our customers, offering everything from library preparation to data analysis and a comprehensive data report. Widespread pre-sequencing services complement our product portfolio.

Products related to exome sequencing

Are you eager to start your own whole exome sequencing project?  Then use our popular INVIEW Exome solution for exome profiling. From sample processing to sequencing to BioIT analysis, the complete service offers excellent coverage of the protein coding regions of the human genome. Receive a final comprehensive data report as fast as two weeks following sample receipt and give your research an immediate boost.

Are you interested only in a few specific exons? Try our NGSelect Amplicon for deepest next-generation sequencing of PCR products with Illumina or for generation of PCR fragments up to 3 kb in length with PacBio.

Human exons make up only about 1% of the total genome. Despite the small number of exons, these protein coding regions harbour about 85% of the mutations associated with human disease. Focusing the sequencing power on the exome produces a high yield of relevant genetic variants that can help determine the molecular basis of complex disorders.

Have you thought about using next-generation sequencing for the genetic characterisation of a certain disease? Then consider INVIEW Human Exome Explore, a sample-to-answer solution which includes DNA isolation, library preparation, sequencing and bioinformatics analysis with delivery times as fast as two weeks. Benefit from a robust approach with high sensitivity and specificity to find mutations in genes already known to cause human diseases or to capture novel causative genes by comparing individual exomes.

Eurofins Genomics also provides the fastest Sanger Sequencing Services and optimised DNA and RNA oligonucleotides, such as (q)PCR Primer NightXpress, SeqPrimer NightXpress, and SaltFree Oligo NightXpress.