14min chapter

DNA Today: A Genetics Podcast cover image

#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy

DNA Today: A Genetics Podcast

CHAPTER

Importance of Assessing Exon Skipping and Alternative Splicing

This chapter emphasizes the significance of assessing exon skipping and alternative splicing in genetic conditions, specifically discussing the case of Lucian musculodystrophy. It highlights the need for evaluating splicing patterns and expression level changes using techniques like optical genome mapping. The chapter also addresses the lack of routine RNA analysis, particularly in the cancer field, and suggests that education and awareness about the potential of such tests are essential.

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