OGT helps genetic scientists explore the medical exome

Oxford, UK – 15 September 2015. 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”.

About OGT

OGT, a Sysmex Group company, is a leading global provider of clinical and diagnostic genomic solutions that are created for scientists by scientists - including CytoCell^®, CytoSure^® and SureSeq™ ranges of FISH, microarray and NGS products. The company is dedicated to creating products that enable researchers and clinical decision makers to reach the right care decisions for each patient, every time. OGT strives to unlock the future of genetic clinical care with a commitment to working in partnership with its customers - not only by sharing its expertise of 25 years at the forefront of genetic endeavour, but also by working closely with scientists to understand their unique challenges, and to customise its approach to meet their exact needs. Dedicated to improving clinical care, OGT believes that through partnership—together—we’ll achieve more.

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

CytoSure^®, SureSeq™ and myProbes^®: For Research Use Only, not for use in diagnostic procedures. CytoCell: Some products may not be available in your region.

About Sysmex Corporation

Sysmex Corporation is a world leader in clinical laboratory systemization and solutions, including laboratory diagnostics, laboratory automation and clinical information systems. Serving customers for more than 50 years, Sysmex focuses on technological leadership in diagnostic science and information tools that make a difference in the health of people worldwide. The company is also exploring emerging opportunities in the life science field. Its R&D efforts focus on the development of high-value-added testing and diagnostic technologies that are innovative, original and optimize individual health. Sysmex also seeks to leverage its state-of-the-art technologies for cell, gene and protein analysis. The company, headquartered in Kobe, Japan, has subsidiaries in North America, Latin America, Europe, the Middle East, Africa, China and Asia Pacific and employs more than 9,000 employees worldwide. Sysmex Corporation is listed in the top tier of the Tokyo Stock Exchange.

For more information about Sysmex Corporation and its affiliate companies, please visit www.sysmex.co.jp/en/