3min chapter

DNA Today: A Genetics Podcast cover image

#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy

DNA Today: A Genetics Podcast

CHAPTER

The Importance of Comprehensive Analysis of Different Genetic Tests

This chapter explores the significance of conducting multiple genetic tests together, including optical genome mapping, repeat expansion analysis, whole genome sequencing, transcriptome sequencing, and long read technologies. It highlights the need for a comprehensive analysis of these data to enhance diagnostic yield, along with the challenges of handling and interpreting the large amount of genomic data. The chapter concludes with an introduction to Praxis Genomics and their approach to integrating different types of genetic tests.

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