DNA Today: A Genetics Podcast cover image

DNA Today: A Genetics Podcast

#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy

Dec 22, 2023
Dr. Peter Nagy, a genetic technology expert, discusses the challenges of diagnosing rare genetic diseases and the advantages of optical genome mapping over traditional cytogenetic analyses. He highlights the power of combining whole genome sequencing and optical genome mapping, as well as the importance of transcriptome analysis. They also explore the comprehensive analysis of multiple genetic tests and discuss the future of DNA technology.
36:24

Episode guests

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Quick takeaways

  • Combining whole genome sequencing with optical genome mapping can provide a more comprehensive assessment for diagnosing rare genetic diseases and ensure that no variant is missed.
  • Optical genome mapping complements other diagnostic technologies by enabling the detection of smaller structural changes in the genome with higher resolution, leading to a greater diagnostic yield especially for missing exons or other structural variants.

Deep dives

Challenges in Diagnosing Rare Diseases

Diagnosing rare diseases can be challenging due to the vast size of the genome and the limited resolution of current diagnostic technologies such as microarray and cytogenetics. Many disease-causing mutations are located outside the targeted regions, and only a small segment of the whole genome is typically analyzed, leading to a high number of undiagnosed cases. To overcome these challenges, combining whole genome sequencing with optical genome mapping can provide a more comprehensive assessment, allowing the detection of smaller structural changes and ensuring that no variant is missed.

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