A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing
Paired DNA and RNA testing revealed unexpected splice events altering variant interpretation, expanding our knowledge of clinically important splicing mechanisms and highlighting the benefit of RNA testing.
Authors
- Colin C. Young (ORCID: https://orcid.org/0000-0002-9385-8262)
- Jesus Ramirez Castano (ORCID: https://orcid.org/0000-0003-0615-4687)
- Marcy E. Richardson (ORCID: https://orcid.org/0000-0002-4626-4920)
- Carolyn Horton (ORCID: https://orcid.org/0000-0001-5186-6208)
- Terra Brannan
- Bhuvan Molparia
- Heather Zimmermann (ORCID: https://orcid.org/0009-0001-8442-9159)
- Alexandra Richardson (ORCID: https://orcid.org/0000-0003-0978-7965)
Institutions
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- Genes
- Published
- 2025-11-13
- DOI
- https://doi.org/10.3390/genes16111382
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00