Genomics Facility

We are a state-of-the-art high-throughput sequencing facility providing bespoke genome sequencing and bioinformatic analysis to biomedical research scientists throughout Wales.

High-throughput (Next Generation) genome sequencing is a new, rapidly developing technology, of fundamental importance to modern genetics research in general and biomedical research in particular.

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Illumina Miseq: a bench-top high-throughput sequencer capable of generating up to 15 gigabases of raw sequence data in a single run.

We provide high-throughput sequencing technology for genetic research in Wales and provide expert support and advice to encourage greater uptake of this fundamental technology.

We are supporting development of sequencing for diagnosis of inherited and acquired disease, enabling more personalised and effective treatment.

Through our collaborative relationship with the NHS All Wales Laboratory Genetics Service we have access to the Illumina MiSeq and Ion Proton technologies as well as our own Life Technologies 5500xl WildFire DNA sequencer. With the NHS we are working to develop these modern DNA sequencing technologies for diagnosis of inherited disease, enabling more personalised and effective treatment.

Our Team

  • Dr James Colley, Lead Scientist and Facility Manager
  • Dr Kevin Ashelford, Lead Bioinformatician
  • Dr Peter Giles, Bioinformatician
  • Dr Vikki Humphreys, Technician
  • Jaspreet Hothi, Technician

We are a team of experienced post-doctoral and technical staff with many years of sequencing and bioinformatics experience between us. We have the necessary expertise to take a sequencing project from initial sample to final analysis and specialise in providing a bespoke resource for our many research colleagues.

What we do

We provide a bespoke sequencing service to biomedical researchers in medically important areas of genetic research such as cancer, inherited cardiovascular disease and neurological disorders that are priority health areas of the Welsh Government.

AB SOLiD 5500 xl high-throughput sequencer

Our AB SOLiD 5500 W high-throughput sequencer, capable of generating up to 320 gigabases of raw sequence data in a single run.

We provide an invaluable source of expertise and advice to those wanting to exploit high- throughput sequencing. We work closely with our collaborators in the design and implementation of projects and offer bespoke bioinformatics support, working closely with investigators to ensure effective project design and full understanding and exploitation of their data.

We are passionate in championing the role of high-throughput sequencing in modern biomedical research, working closely with research colleagues and encouraging adoption through workshops and seminars.

The technology

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We have access to the latest sequencing technology to ensure the best possible platform is available for our collaborators’ needs.

  • Life Technologies SOLiD 5500 W series Genetic Analyser (Wales Gene Park): Our current workhorse platform, capable of generating up to 320 gigabases of sequence data equivalent to 36 human exomes per run, or up to three human genomes at a coverage depth of 30x.
  • Illumina MiSeq System (NHS Diagnostic Laboratory): Capable of generating up to 15 gigabases of data within a couple of days. Suitable for analysis of gene panels and high depth gene sequencing. 
  • Life Technologies Ion Proton System (NHS Diagnostic Laboratory): The latest arrival, a state-of-the-art benchtop semiconductor sequencing system currently capable of generating up to 10 gigabases of data in 2 hours, this technology will expand in 2013 to a point where it will sequence an entire human genome in 2 to 4 hours.

In addition, our bioinformatics team is supported by a dedicated high-performance six-node computer cluster, with 288 gigabytes of memory, 72 cores and 44 terabytes of hard drive storage, fully backed-up on a separate 50 terabyte back-up server to ensure data security.

Contact us

We are located within the Institute of Medical Genetics on the Cardiff University Heath
Campus.

For enquiries, please contact the Genomics Facility Manager, Dr James Colley, at
ColleyJP@Cardiff.ac.uk.