OGT helps genetic scientists explore the medical exome

Tuesday 15 September 2015
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Oxford Gene Technology (OGT), The Molecular Genetics Company, has been speaking to genetic scientists, Dr Tracey Lewis (Associated Regional and University Pathologists [ARUP] Laboratories) and Dr Emily Farrow (Children’s Mercy Hospital), in a new whitepaper entitled “Examining the Medical Exome”. This whitepaper describes their experiences with OGT’s CytoSure™ Medical Research Exome Array and explores how this customisable array targets a variety of genetic disorders to complement next generation sequencing (NGS) for clinical genetic research.

The overwhelming complexity of genetic disorders is increasingly evident, and rarely caused by isolated mutations within single genes. Copy number variations (CNVs) play a significant role in many disorders and cannot be reliably detected by NGS. Microarray technologies offer the opportunity to detect CNVs and analyse thousands of genes simultaneously.

The CytoSure Medical Research Exome Array was developed in collaboration with Emory Genetics Laboratory, utilising its extensive expertise to provide a focused array that combines the latest genomic content with high-resolution exon-level probe design. It includes the most up-to-date gene content and is research-validated, maximising the likelihood of detecting causative variation. As Dr Farrow and Dr Lewis explain, the key to a high-resolution array is the number of probes in the specific region of interest, meaning that high-density coverage with a focus on exons is important. The CytoSure Medical Research Exome Array retains complete genomic backbone coverage while covering each exon of over 4600 medically-relevant hand-curated genes, grouped into disease- and syndrome-specific panels. Dr Farrow comments: “The CytoSure Medical Research Exome Array provides us with the exon-level resolution needed to detect CNVs over the medical exome that are currently missed by NGS and traditional microarray designs, providing additional insights into the mutation spectrum of the sample.”

In addition, the ability to customise the array enables researchers to utilise this single research-validated platform as a base for a host of more specific studies. An explanation from Dr Lewis about how this has been implemented, as well as the benefits it brings to her research, is included in the whitepaper.

The whitepaper follows Dr Lewis and Dr Farrow as they describe how they employ microarrays alongside NGS for the ideal complementary strategy in clinical genetic research. The combination provides a cost-effective workflow for comprehensive mutational analysis, as Dr Farrow explains: “Even as NGS continues to develop, microarrays remain critical to detecting CNVs”.

The whitepaper is available to read online here. For more information on OGT’s solutions for cytogenetic research, please visit www.ogt.com

For further information, please contact:

Oxford Gene Technology, Begbroke Science Park, Begbroke Hill, Woodstock Road, Begbroke, Oxfordshire, OX5 1PF, U.K.

T: +44 (0) 1865 856826 ; F: +44 (0) 1865 848684

E: contact@ogt.com ; W: www.ogt.com ; Twitter: @OxfordGeneTech

Notes for editors:

About Oxford Gene Technology

Oxford Gene Technology (OGT) provides world-class genetics research solutions to leading clinical and academic research institutions. Founded by Professor Sir Edwin Southern, and with customers in over 60 countries worldwide, OGT has a strong reputation and increasing share in the large and growing genomic medicine market. The Company’s Cytocell®, CytoSure™ and SureSeq™ range of fluorescence in situ hybridisation (FISH), microarray and next generation sequencing (NGS) products deliver high-quality genetic analysis, enabling accurate identification and confirmation of the causative variation underlying genetic disease.

For more information on the Company, please visit our website at www.ogt.com

CytoSure™ and SureSeq™: For Research Use Only; Not for Use in Diagnostic Procedures. Cytocell: Some products may not be available in the US.

CytoSure: This product is provided under an agreement between Agilent Technologies, Inc., and OGT. The manufacture, use, sale or import of this product may be subject to one or more of U.S. patents, pending applications, and corresponding international equivalents, owned by Agilent Technologies, Inc. The purchaser has the non-transferable right to use and consume the product for RESEARCH USE ONLY AND NOT for DIAGNOSTICS PROCEDURES. It is not intended for use, and should not be used, for the diagnosis, prevention, monitoring, treatment or alleviation of any disease or condition, or for the investigation of any physiological process, in any identifiable human, or for any other medical purpose.

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