Robust Experience In Applying Whole Exome Sequencing
For Research, Discovery And Clinical Testing
Researchers turn to us for human Whole Exome Sequencing because of our ability to help them precisely select the Next-Generation Sequencing, NGS services to best meet the needs of their unique research in a cost-effective way.
The power of Whole Exome Sequencing is illustrated by a recent study published in Nature Medicine, in which whole exome sequencing data provided by Otogenetics allowed the identification of not only variants, but also copy number variations in tumors.
What Is Whole Exome Sequencing, WES?
WES is a cost effective alternative to Whole Genome Sequencing, WGS. The human exome consists of approximately 180,000 exons, which constitutes about 1-2% of the human genome. These exon protein coding regions harbor variants which are much more likely to have severe consequences than those in the remaining 99% of the genome. Instead of incurring the time and cost of sequencing the whole genome and the challenge to handle a vast data set, many researchers and clinicians can obtain the decision-making data they need by sequencing the exomes.
WES Can Identify Genetic Variants Responsible For
- Mendelian diseases such as Huntington’s disease
- Somatic variants linked to various cancers
- Underlying genetic components for complex diseases, such as Alzheimer’s, autism, and major chronic diseases of cardiovascular systems and diabetes.
Whole Exome Sequencing For
Optimized Workflows For FFPE Whole Exome Sequencing
Or Samples Of limited Input & Low Quality
We work with industry leading companies to develop reproducible and consistent workflows for normal and challenge samples.
Our sample preparation instructions recommend the optimized gDNA extraction kits for normal and FFPE tissues, cells, saliva, blood, and other sample types. Our optimized workflow generates superb whole exome sequencing data for the low quality and limited input samples.
We are trusted by researchers and clinicians in 30 countries who need to generate Whole Exome Sequencing data that is unique for their research.
Click here for guidelines for FFPE samples.
Providing Reporting Options You Need For Your WES Project
- Raw Data (Fastq files)
- Mapping & Alignment (Bam file)
- Sequence Variation (SNP/Indel, VCF file)
- Comparisons between samples or sample groups
- Trio Analysis (Parents and offspring)
- Copy Number Variation Analysis
- Custom Analysis Available
- Reports for patient specific diagnosis also available. Please visit our Clinical Exome Sequencing page
State Of The Art Techniques To Ensure WES Quality
- Next Generation Sequencing (NGS) Service on Illumina HiSeq.
- Sample tracking via LIMS for customers to view projects in real-time.
- Multiple QC steps to ensure the highest quality of service.
WES Provides The Right Balance Of Insights And Cost
- WGS takes longer and is often cost-prohibitive while the data needed is usually found in the exons.
- Sanger sequencing and microarrays are not effective for large target regions.
- Targeted pre-defined panels may not contain all of the data needed for the project.
Visit publications page to learn how we assist researchers and clinicians in discovery and diagnosis