Genomics Assays & Services
Comprehensive Next-generation Sequencing Assays
Whole exome sequencing (WES) provides information about the entire protein coding regions of the genome, in a single test. Approximately 1-2% of the human genome codes for functional proteins and rare genetic variants causing many disorders map to these regions. In exome sequencing technology, the coding regions are captured by complementary probes to generate a sequencing library. Our in-house library preparation methods are capable of delivering ≥ 80% of on-target sequencing reads for efficient exome sequencing. Massive parallel sequencing by Illumina sequencing by synthesis (SBS) technology, which is known to minimize false-positive and false-negative calls, enhances the detection of true rare variants. While WES is a powerful tool for unravelling rare coding variants, it is not suitable for analyzing deep intronic variants, copy number variations, chromosomal rearrangements or epigenetic modifications of the genomic DNA.
Whole genome sequencing (WGS) is the method of choice for comprehensive analysis of entire genomes. A combination of rapidly reducing costs and computational solutions for big data analysis is beginning to make WGS an accessible tool for genetics research. The key advantage of this technology is the power to detect both small and large variants, regulatory region variants and large chromosomal events from known genomes. WGS libraries are prepared by mechanical sheared DNA and PCR-free methods. Therefore, WGS provides superior coverage to genomic regions that have been traditionally difficult to sequence. Whole exome sequencing can be performed for single samples, families or specific cohorts of samples. Though WGS is popularly being used for human genomes, WGS of any species is possible on our sequencing platforms.
Custom Next-generation Sequencing Services
The UAEU Genomics Lab services can be availed for each stage of an NGS experiments:
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DNA Extraction: For extraction of high-quality DNA suitable for NGS applications.
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Library preparation for a variety of applications.
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Sequencing by synthesis on the latest Illumina platforms.
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Bioinformatics solutions - Our Bioinformatics lab is equipped with ultra-rapid Bio-IT platforms for primary and secondary sequence analysis, robust softwares and exhaustive annotation sources for tertiary analysis. The bioinformatics services are available as customizable solutions.
- Whole exome and genome sequencing can be performed for single samples, families or specific cohorts of samples.
- We accept whole blood samples and genomic DNA samples for the different type of assays. Please refer to the table for sample submission guidelines.
Assay | Sample type | Minimum numbers in order | Recommended amount |
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Whole exome | Blood | 1 | two tubes per sample, 2mL/tube |
genomic DNA | 1 | Two 1.5 ml tubes, each containing at least 200 ng per sample | |
Illumina compatible libraries for sequencing | 1 | Two 1.5 ml tubes, 200 µl with internal control spike, Indexed, pooled, diluted and neutralized Library with a minimum concentration of 10+ nM. | |
Whole genome | Blood | 1 | two tubes per sample, 2mL/tube |
genomic DNA | 1 | Two 1.5 ml tubes, each containing at least 5 ug per sample | |
Illumina compatible libraries for sequencing | Two 1.5 ml tubes, 250 µl with internal control spike, Indexed, pooled, diluted and neutralized Library with a minimum concentration of 10+ nM. |
- Each sample should be accompanied by a requisition form.
- For General Service requisition from UAEU-genomics, please fill the General Requisition form and our team will determine the best detailed requisition form best fitting your application needs, and reply to you with said form to fill all the necessary details.
- If you have a specific application of interest in mind, you can Skip the General Requisition form and jump directly to the Detailed form best fitting your workflow in our Requisition forms Section. Follow the guidelines for submission of samples (e. g. Sample types and containers)
For further details on sample submission please contact uaeugenomics@uaeu.ac.ae
General Requisition forms
Detailed Application Specific Form
Enquire: uaeugenomics@uaeu.ac.ae
UAEU Genotyping Services
Genotyping is the process of identifying genetic variation at specific positions in the genome of an organism. The variations in individual genomes, collectively termed as genotype, distinguishes individuals from one another and has a wide range of applications such as predicting the risk for genetic disorders, tailoring treatment options and predicting response to certain drugs. Types of genetic variation include single nucleotide variations/polymorphisms (SNV/SNP), small insertions and deletions (indels) and copy number variations in genes (CNVs). The most common variation in humans are SNPs. The choice of a genotyping technology depends on the number of genotypes to be analyzed, the number of samples and the type of variation. Technologies such as PCR and qPCR allow only identification of known genotypes (SNP screening) while sequencing technologies such as NGS and Sanger aid in the discovery of novel genotypes.
Genotyping by qPCR involves PCR amplification the region surrounding the SNP using a pair of primers and a pair of allele specific reporter fluorescent probes for discriminating between the alleles. Since the reporter dyes for the two allele-specific probes are different, qPCR allows differentiating between homozygotes for allele 1, heterozygotes for alleles 1 and 2 and homozygotes for allele 2. Our genotyping assays are validated using Applied biosystems Taqman SNP assays on the Quantstudio 7 flex platform. Taqman assays are reliable, reproducible and require low concentration of sample DNA. Therefore, Taqman assays can be the optimum and cost-effective choice for studies involving a small number of SNPs in large populations.
Parallel targeted deep sequencing of regions of interest can provide information about known and novel SNPs. For multiplexing SNP discovery and screening across multiple samples genotyping by sequencing can be a cost-effective solution. Genotyping by sequencing can also reveal variations other than SNPs, such as indels or microsatellites. Popular methods for genotyping by sequencing include hybridization capture and amplicon sequencing. Genotyping by sequencing on the Illumina MiSeq platform can be customized according the needs.
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Sample submission Guidelines |
*Large sample size is required for producing accurate allele discrimination plot For further details on sample submission please contact uaeugenomics@uaeu.ac.ae |
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Requisition Form | ||||||||||||||||
Pricing |
Enquire: uaeugenomics@uaeu.ac.ae |
Potential Assays in the pipeline
Accordion Heading | Accordion Content |
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Custom targeted sequencing |
Targeted region sequencing is an effective approach for studying selected regions of interest (e. g. gene panels) within the genome. A panel of probes or primers for target regions can be designed and used for enriching the regions of interests from whole genomic DNA. Custom targeted sequencing is a cost-effective solution for sequencing a small number of genes with high coverage. Target definition, panel design and validation are specific for each panel and this service can be availed after consultation with our in-house NGS specialists. |
RNA-seq |
RNA-seq or RNA sequencing is performed to analyze the sequence and quantity of RNA in a sample by NGS. This technique is useful for analyzing the whole transcriptome of an organism for gene expression profiling, RNA splicing/editing and differential gene expression analysis. RNA-seq workflows can be customized according to the research needs after consultation with in-house NGS specialists. |
Metagenomics |
Metagenomics is a tool used for analyzing DNA acquired from environmental samples directly, eliminating the need for pure cultures of microorganisms. NGS sequencing permits parallel high-resolution sequencing of all the DNA fragments in a mixed sample of microrganisms. The sequences can be aligned to a reference sequence database for taxonomical classification and determining the identity of the microbes in a sample. Clinical applications of metagenomics include diagnosis of infectious diseases, pathogen discovery, outbreak tracking and surveillance. Metagenomics analysis employs different approaches such as 16SRna sequencing and Shotgun sequencing based on your target community. |
De Novo Sequencing |
De novo sequencing is a derivative of Whole genome sequencing, for assembling genomes without any prior knowledge of the sequence. Sequence reads are assembled by contig assembly without alignment on to a previous reference sequence. The coverage quality of de novo sequence data depends on the length and continuity of the contigs. It Provides useful information for mapping genomes of novel organisms or finishing genomes of known organisms, identifies structural variants and complex rearrangements, such as deletions, inversions, or translocations and Generates accurate reference sequences, even for complex or polyploid genomes. |
Methylation Sequencing |
The methylation of cytosines is a major epigenomic mechanism that modulates the primary genomic code. This leads to the formation of 5-methylcytosines at select sites of the genome. In methylation sequencing, both Whole-Genome Bisulfite Sequencing and Reduced Representation Bisulfite Sequencing are used in order to convert cytosine residues to uracil, leaving the 5-methylcytosine residues unaffected. Therefore, DNA that has been treated with bisulfite retains only methylated cytosines. Thus, bisulfite treatment introduces specific changes in the DNA sequence that depend on the methylation status of individual cytosine residues, this enables us to align the generated sequence onto a reference genome and determine the converted and non-converted basepairs and perform Epigenomic mapping. |
Chip-Seq |
ChIP-Seq, or ChIP-sequencing, is a technique that involved both chromatin immunoprecipitation technique the massive parallel sequencing capability of NGS. Chromatin immunoprecipitation lets us identify specific DNA sequences bound to proteins of interest. This process involves fixation of chromatin with formaldehyde through covalent linkages between DNA-binding proteins and DNA, cell lysis, Mechanical shearing of DNA, wherein specific DNA–protein complexes are isolated through immunoprecipitation with protein-specific antibodies. Then, the isolate DNA is amplified by PCR. And the generated amplicons are sequenced using Next Generation Sequencing. ChIP-seq is vital and incredibly useful in epigenomic research. Whole Genome analysis of histone modifications, enables fundamental analysis the epigenetic state in a sequence or Sequences contributes to cell identity, development, lineage specification, and disease. |
For further details on the availability of the assays contact uaeugenomics@uaeu.ac.ae
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