An integrated approach to clinical genetics research

Oxford, UK – 08 April 2014. OGT, The Molecular Genetics Company, has produced a new whitepaper titled ‘Comprehensive genomic analysis – complementing sequencing with high-resolution CNV detection’. The free, downloadable white paper provides researchers with an opportunity to explore the latest strategies in the genomic characterisation of complex disorders, and to discover how, when used alongside sequencing, microarrays play a vital role in delivering accurate detection of point mutations and single exon copy number aberrations.

The new white paper explains how utilising a range of available tools builds a more complete picture of inherently complex genetic disorders, providing the insights necessary to drive novel discoveries and research into potential therapeutic strategies. At the forefront of this approach is Professor Madhuri Hegde, Professor of Human Genetics at Emory Genetics Laboratory (EGL, Atlanta, USA), whose success in applying such an integrated strategy is also explored.

The paper highlights that while targeted DNA sequencing presents a valuable approach for genomic analysis, it is unable to detect copy number variations (CNV) with certainty. In contrast, comparative genomic hybridisation arrays (aCGH) are the gold-standard for CNV detection and the 60-mer oligonucleotide probes utilised by OGT’s aCGH platform have been shown to deliver superior CNV detection compared with alternative platforms.

In collaboration with experts at EGL, OGT has designed a range of molecular arrays that are the ideal complement to DNA sequencing, providing a particularly powerful tool for investigating the variety of aberrations underlying genetic disorders. The resulting CytoSure^® Molecular Array portfolio enables detection of CNV in genes associated with over 20 genetic disorders including cardiovascular, intellectual disability, inherited cancers and neuromuscular disorders, with the additional option to create custom arrays.

Also available to watch online is a recording of OGT’s recent American College of Medical Genetics (ACMG) workshop, where Professor Hegde discusses the design and application of the new CytoSure Medical Exome Array, which covers over 4,600 hand-curated genes for accurate detection of medically-relevant CNV.

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/.