P196: Significance of near-canonical conserved splice region nucleotides
diagnostic rates but also improves patient care by enabling precise genetic counseling with disease-specific prognostic information and by enabling timely, targeted interventions.Looking forward, the UW-UDP aims to expand its reach and impact by integrating new technologies, exploring the impact of social determinants like ADI on outcomes, and deepening collaboration to set new standards for diagnosing and managing rare diseases in underserved populations.
Authors
- Glenn A. Maston (ORCID: https://orcid.org/0009-0001-8891-5138)
- John Murdoch
Institutions
- Quest Diagnostics (United Kingdom) (GB)
- Quest Diagnostics (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102161
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00