#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy

We are diving deep into genetic technology, specifically optical genome mapping and transcriptome analysis. Joining us to explore these technologies is Dr. Peter Nagy.    Dr. Nagy graduated from Pécs Medical University, Hungary, in 1989. He received his PhD in biochemistry in 1995 from Purdue University. He completed his AP/Molecular genetic pathology residency and postdoctoral fellowship training at Stanford University Medical Center. Dr. Nagy is a member of ASCP and CAP and serves as a CAP laboratory inspector. He is board certified in Anatomic and Molecular Genetic Pathology and has worked as molecular laboratory director since 2004 at the University of Iowa, Columbia University and Medical Neurogenetics Laboratories. Dr. Nagy’s research interest is the development and application of next generation sequencing and other genomic technologies for molecular diagnostics. He has authored more than 30 articles published in such journals as Cell, Molecular Cell, and Proceedings of the National Academy of Sciences. On This Episode We Discuss: Challenges associated with diagnosing rare genetic diseases How various tiers of genetic testing (panels, exome, whole genome) cater to different clinical needs Advantage of optical genome mapping compared to traditional cytogenetic analyses like FISH, chromosomal microarray (CMA), and whole exome sequencing (WES) Power and accuracy of combining whole genome sequencing and optical genome mapping  Advantages of transcriptome analysis Navigating discussions with healthcare providers and patients to ensure they understand the implications and benefits of various genetic testing technologies Impact of optimal genome mapping and transcriptome analysis on precision medicine   Learn more about Praxis Genomics on their website. Dr. Nagy has done research on the phylogenetic origins of the Árpád Dynasty, check out this paper in which he is the first author and this paper. In this interview we also referenced DNA Today Episode 247 about DMD Exon Skipping.      Stay tuned for the last 2023 episode of DNA Today on Friday, December 21st! This is a special interview as I sat down with author Robert Boscacci in NBC Universal Studios to pick his brain about how computer vision can be used as a tool to diagnose genetic conditions.    New episodes are released every Friday. In the meantime, you can binge over 265 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios.    DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].