Customisable, exon-focused aCGH microarrays complement NGS for additional insights into genetic disorders

Dr. Tracey Lewis

Research Scientist, R&D Molecular Genomics Group, ARUP Laboratories, Salt Lake City, USA

Responsible for developing microarray testing to complement NGS, test validation, review of clinical findings and new technology exploration.

In this presentation, Dr Tracey Lewis of the R&D Molecular Genomics Group at ARUP Laboratories in Salt Lake City, USA, delves into the benefits of combining the study of copy number variations (CNVs) and single nucleotide variations (SNVs) for enhanced mutation detection across a range of genetic conditions. By leveraging the power of both CNVs and SNVs, ARUP has significantly improved their ability to detect disease-relevant mutations.

In this presentation, you will discover how ARUP has achieved these impressive results. Specifically, Dr Lewis will explain how over 20% of the increase in their mutation detection rates came from single-exon micro-deletions and duplications.

She will also discuss how ARUP has utilized the CytoSure^® Medical Research Exome microarray (MREA), which offers a large, research-validated probe set, to develop smaller, more focused, and cost-effective array formats.

The combination of CNVs and SNVs offers researchers a more comprehensive approach to mutation detection, leading to more accurate results. By attending this presentation, you will gain valuable insights into how ARUP has successfully integrated these two approaches and achieved impressive results. This presentation is a must-watch for any researcher or industry professional interested in improving their mutation detection capabilities.

Recent publications from the speaker

1. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
2. Molecular Pathology Methods
3. A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity

Disclaimer

This presentation is intended for educational purposes only and does not replace independent professional judgment. Statements of fact and opinions expressed are those of the presenters individually and, unless expressly stated to the contrary, are not the opinion or position of the Oxford Gene Technology Group (OGT). OGT does not endorse or approve, and assumes no responsibility for, the content, accuracy or completeness of the information presented.

CytoSure^®: For research use only; not for use in diagnostic procedures.