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Madhuri Hegde

Professor, Department of Human Genetics and Paediatrics, Emory University School of Medicine; Executive Director, Emory Genetics Laboratory, Atlanta, Georgia, USA

Madhuri Hegde

The field of clinical genetics research has been revolutionised by the emergence of cutting-edge genomic technologies. Among these technologies, microarrays have become a vital tool for detecting copy number variations (CNVs) in genetic material. Despite the rise of newer technologies such as next-generation sequencing (NGS), microarrays remain a crucial component of the clinical genetics research framework.

Madhuri Hegde, a renowned expert in the field of clinical genetics research at Emory University School of Medicine in Georgia, USA, has taken the use of microarrays to the next level. In her groundbreaking work with OGT, Hegde has combined NGS with microarrays to develop an innovative genomic data interpretation research pipeline. This platform allows for comprehensive by integrating the latest CNV detection capabilities of microarrays, including OGT's CytoSure® Disease-Focused Research microarrays.

By leveraging the power of both NGS and microarrays, Hegde's work offers researchers an all-inclusive toolkit for the detection, analysis, and interpretation of genetic material. The integration of these two technologies provides researchers with a more comprehensive understanding of genetic disorders, leading to more accurate findings.

 

Recent publications from the speaker

  1. Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis
  2. Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
  3. Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy

 

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. 

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