An Integrated Approach to Clinical Genetics Research

Oxford Gene Technology (OGT), The Molecular Genetics Company, has produced a new whitepaper titled ‘Comprehensive genomic analysis – complementing sequencing with high-resolution CNV detection’. The free, downloadable whitepaper provides researchers with an opportunity to explore the latest strategies in the genomic characterization 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 whitepaper explains how utilizing 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 hybridization arrays (aCGH) are the gold-standard for CNV detection and the 60-mer oligonucleotide probes utilized 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 4600 hand-curated genes for accurate detection of medically-relevant CNV.