P653: Introns to insights: The transformative power of RNA sequencing in the diagnosis of rare genetic disorders
The University of Utah Penelope Program and the Undiagnosed Diseases Network focus on addressing the diagnostic complexities of individuals with rare diseases. RNA sequencing (RNA-seq) has become an essential tool in clinical genetics, providing critical insights into gene expression and alternative splicing. By examining transcriptomic changes, RNA-seq offers valuable functional data that helps clarify the impact of genetic variants identified through DNA sequencing. This approach enables more accurate pathogenicity assessment and aid in resolving variants of uncertain significance.
Authors
- Pınar Bayrak‐Toydemir (ORCID: https://orcid.org/0000-0001-9381-2478)
- Lorenzo Botto (ORCID: https://orcid.org/0000-0002-7727-5155)
- Caleb M. Hocutt (ORCID: https://orcid.org/0000-0001-6396-6046)
- Rong Mao (ORCID: https://orcid.org/0000-0002-1236-0252)
- Jian Zhao (ORCID: https://orcid.org/0000-0002-4416-7334)
- Jennie Vagher (ORCID: https://orcid.org/0009-0004-5818-6589)
- Steven E. Boyden (ORCID: https://orcid.org/0000-0002-9334-1466)
- David H. Viskochil (ORCID: https://orcid.org/0000-0001-5364-3366)
- Alexander Chapin
- John J. O’Shea (ORCID: https://orcid.org/0000-0002-6456-9752)
- Jessica Meznarich (ORCID: https://orcid.org/0000-0001-7222-4351)
- Robert E. Lewis (ORCID: https://orcid.org/0000-0002-3616-2971)
- Ting Wen (ORCID: https://orcid.org/0009-0006-7209-5565)
- Elaine M. Fan (ORCID: https://orcid.org/0000-0002-0414-9123)
- Ashley Andrews (ORCID: https://orcid.org/0000-0001-7032-4594)
- Thomas Nicholas
- Erin Baldwin
Institutions
- Henry Ford Health System (US)
- University of Utah (US)
- Huntsman Cancer Institute (US)
- ARUP Laboratories (United States) (US)
- Center for Human Genetics (US)
- Pediatrics and Genetics (US)
- Star Center (US)
- ARUP Laboratories (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103022
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00