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Genomics Unit

This research facility focuses on the application of genomics technologies so as to better understand human disease.

The Genomics Core Facility Unit is located in Ulster University's Biomedical Sciences Research Institute (BMSRI), based in Coleraine.

We are currently running projects in partnership with external academic Universities, private industries and hospitals to identify genetic biomarkers underlying a range of medical conditions as well as examining the role of genetics in drug response (parmacogenomics).

The Unit offers state-of-the-art equipment and expertise, which also enables research on gene regulation and gene expression patterns and the development of novel techniques to therapeutically alter the expression of affected genes. In addition, the Unit has extensive expertise in key genomic applications that supports ongoing research into identifying and characterising bacteria from various environments (metagenomics), which can be used to confirm outbreaks, track infections through a population, analyse bacterial evolution.

One of the key strengths of the genomics core facility unit is that it is a cross disciplinary team of molecular geneticists, and bioinformaticians, working with clinicians to support the development, validation and translation of genomic research into a routine clinical diagnostic service.

Overview of what we offer

  • DNA Sequencing-(De Novo Sequencing, Functional Genomics, Re-Sequencing of Genomics Fragments, Re-sequencing of Genomes)
  • Genotyping DNA Fragment Analysis Applications
    • Microsatellite Analysis (short tandem repeats (STRs), variable nucleotide tandem repeats (VNTRs)
    • MLPA Analysis (multiplex ligation-dependent probe amplification)
  • Gene expression analysis
  • SNP genotyping
  • Epigenetic Analysis-DNA Methylation profiling
  • Genome editing tools
  • DNA /RNA quality control Assessment
  • miRNA Profiling
  • Metagenomics

Due to the unique nature of each project, our services are customised to meet each researcher's needs.

Our major equipment

  • Applied Biosystems 3130xl DNA Analyser
  • Agilent 2100 Bioanalyzer
  • LC480 Real-Time PCR Machine
  • PyroMark Q24 Pyrosequencer
  • FLUOstar Omega Plate Reader
  • GEL LOGIC 100 Imaging System
  • ChemiDoc Imaging System
  • G:BOX Chemi XRQ Imaging System
  • Nanodrop 1000 Spectrophotometer

Genetic instruments and their applications


ABI 3130xl DNA Analyser

The genomics core facility can be used for a number of applications such as: De Novo sequencing, detection of known and novel variants, single nucleotide polymorphism (SNP) discovery and validation, Microsatellite/STR analysis, cell line authentication and confirmation of next-generation sequencing results, mitochondrial sequencing, bacterial, fungal and viral identification from various environments (metagenomics).

PyroMark Q24 Pyrosequencer

The PyroMark Q24 uses Pyrosequencing technology for real-time sequence based detection and quantification of sequence variants and epigenetic methylation. The Pyrosequencer is a highly adaptable investigative tool for a broad range of disciplines and offers applications in DNA methylation analysis, genetic testing.

For example, the characterisation of complex DNA modifications underlying gene expression patterns; quantitative CpG methylation, SNPs, insertion/deletions, STRs and variable gene copy number, can be performed. In addition, microbial genotyping and methylation analysis in bacteria can also be analysed. Methylation have been shown to affect numerous biological processes as well as been a critical factor in virulence and disease.   Furthermore, 16S ribosomal RNA gene (rDNA) amplicon analysis can be used to investigate microbial diversity.


The CryptoScan service provides rapid genotyping and DNA sequence analysis of Cryptosporidium oocysts from a wide variety of water and clinical samples. CryptoScan provides vital information for routine monitoring of drinking water quality removes questionable results – and enables source tracking of oocysts during outbreak analysis. CryptoScan is currently service provider of Cryptosporidium genotyping to Northern Ireland Water.

Gene expression ppplications

LC480 Real-Time PCR Instrument

The LightCycler® 480 System is a plate-based, highly adaptable and versatile real-time PCR system for gene expression analysis, SNP genotyping, mutation scanning via high resolution melting (HRM), microsatellite analysis, pathogen detection and drug target validation. The instrument is also used for measuring RNA interference; reverse transcription to quantify messenger RNA (mRNA) and microRNA (miRNA) in cells or tissues.

Nucleic Acid Quantification and Quality Control

Lab-on a Chip: (RNA/DNA Bioanalyser) and Nanodrop 1000 Spectrophotometer.

Agilent's 2100 Bioanalyzer uses a lab on a chip approach to perform capillary electrophoresis and uses a fluorescent dye that binds to DNA and RNA to determine both concentration and integrity. The electrophoretic analysis on the chip is based on traditional gel electrophoresis principles that have been transferred to a chip format.

The chip format dramatically reduces sample consumption but also separation time. Applications on the instrument include: Gene expression analysis, multiplex PCR, Apoptosis, Transfection efficiency Monitoring and Protein expression monitoring.


For information on the specifics of your particular project and general sample submission guidelines, please contact: