P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools
Conventional genetic diagnostic protocols rely on DNA sequencing as the primary screening method. When potential causative variants are identified, secondary non-DNA omics approaches are sometimes employed to validate or refute their pathogenicity. An alternative strategy—utilizing non-DNA omics as the primary screening tool, followed by secondary DNA sequencing of candidate genes or regions—has remained largely unexplored.
Authors
- Sebastian Oppermann
- Tobias Boettcher
- Sabrina Lemke
- Mandy Radefeldt
- Peter Bauer (ORCID: https://orcid.org/0000-0001-9414-4555)
- Christian Beetz (ORCID: https://orcid.org/0000-0001-7061-2895)
- Catarina Pereira (ORCID: https://orcid.org/0000-0002-8437-7432)
- Susan Zielske
- Erick Alberto Rivera Comparan
- Claudia Mrosowski
Institutions
- Universitätsmedizin Greifswald (DE)
- Centogene (Germany) (DE)
- Instituto Nacional de Pediatria (MX)
- University of Rostock (DE)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103040
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00