Whole exome sequencing is a targeted approach that focuses on Illumina’s high throughput sequencing capabilities on the small fraction of total genomic DNA that is comprised of protein-coding exons.
- Mutation identification and discovery in known genes
- Disease association studies
Omega Bioservices can guide you all the way from project inception to high quality results. Our expert personnel and state-of-the-art equipment allow for high quality data and fast turn-around times. Sequencing is performed on an Illumina HiSeq 2500 utilizing V4 chemistry or the MiSeq with V3 chemistry. These chemistries allow you to receive the maximum value for your samples. Results delivered via secure cloud drive or external hard drives are available.
- Fast turn-around time
- Highly experienced personnel
- Data quality analysis report provided
- Customized bioinformatics solutions available
- Dedication to quality
- Quality of data
At Omega Bioservices, we understand that the quality of the DNA going into next generation sequencing is directly related to the quality of the sequence data coming out. That is why quality metrics are captured at vital points during our process:
- Post extraction: DNA is analyzed to ensure it is of sufficient fragment size and quantity for optimal library preparation chemistries.
- Post library preparation: Fragment size and quantity is again checked to ensure optimal loading onto the Illumina flow cell.
- Post capture: For exome sequencing service, the fragment size and quantity of the capture pool is again checked for optimal flow cell loading.
- NGS run: Careful monitoring of the quality (Q) scores along with cluster densities, percentage of reads passing filter, number of reads generated, and average length of reads.
This constant and consistent quality monitoring effort result in the very best product possible delivered to the customer.
As next generation sequencing methodologies continue to improve and evolve, they can generate expansive data sets that address complex biological questions. Existing bioinformatics programs may not be able to adequately address the nuanced aspects of your problem set or simply do not offer the level of analysis that you need.
If you are in need of analysis advice on you NGS data set, or need direct analysis assistance, Omega Bioservices has a network of specialized bioinformatics providers with the expert knowledge and computational resources to help you achieve your data analysis objectives. We can also help in the experimental design at the very beginning of your project to maximize the value of your data. Contact us and let us connect you with the very best bioinformatics capabilities available.
Our understanding and commitment to quality includes our offer to take full control of the quality of your sequence data by offering a complete suite of sample extraction services. Omega Bio-tek has a full product line of manual and automated extraction technologies for most any type of sample that you want to extract and purify both DNA and RNA for next generation sequencing. These sample types include:
- Whole blood, serum, tissue, stool, urine,fungi, bacteria, virus, plant, soil, water, air filter
In comparison to WGS, whole exome sequencing (WES) targets only coding regions, or exons, of the genome. Isolating exome DNA is accomplished by the use of either RNA or DNA probes typically attached to a solid support matrix such as streptavidin-coated magnetic beads to specifically hybridize to and capture genomic fragments containing exons. These are then purified away from non-coding DNA and then used as input for library preparation and sequencing. This approach can result in up to a 100-fold improvement in gene coverage for the human genome as its coding regions only make up approximately 1% of the genome.
This targeted approach can be extended to other non-coding DNA regions of interest, such as promoter and enhancer regions, disease associated LD blocks, micro-RNA,and introns by adding the appropriately designed probes to the capture beads. This approach has allowed for more precise HLA genotyping than can be achieved by conventional methods. Additionally, this approach can be used in epigenetics by designing probes that capture both DNA strands in order for use in bisulfite-treatment NGS protocols to detect complex or rare methylation events.
WES has become a major experimental approach in the investigation of the genetic basis of human disease. These include the identification of genetic defects in autosomal dominant and recessive diseases, the identification of causative mutations in diseases with genetic and phenotypic heterogeneity, as well as de novo single nucleotide variants that may substantially contribute to mental retardation. Examples of diseases with complex genetic components benefiting from WES include diabetes and autoimmune disorders such as lupus and inflammatory bowel diseases. The application of WES to cancer research in the areas of risk assessment, prognosis, and personalized chemotherapy is also underway.
Several NGS product vendors offer a complete set of pre-designed hybridization probes targeting the entire human (and other organisms) exome as well as additional services for customer requested probe designs targeting other genomic regions of interest. Some factors that can impact WES results are off-target hybridization which can introduce non-exons into the sequence data set; and insufficient gene annotation of the databases such as the Consensus Coding Sequence Database and Ref Seq Database that are used to design the capture hybridization probes can result in some exon non-representation.