P257: ClinVar-based reanalysis in the UDN cohort
The Undiagnosed Diseases Network (UDN) has been enrolling participants since 2015. A comprehensive evaluation with a UDN clinical site is provided for these participants. At the time of writing, 2,656 participants have been evaluated with 826 diagnoses. Approximately 69% of participants have no conclusive diagnosis and require periodic reanalysis of their data to ensure that updated knowledge can be brought to bear on their case.
Authors
- Gábor Marth (ORCID: https://orcid.org/0000-0003-0222-1694)
- Alister C. Ward (ORCID: https://orcid.org/0000-0001-7945-7975)
- Isabelle Cooperstein (ORCID: https://orcid.org/0000-0001-9080-4077)
- Shilpa N. Kobren (ORCID: https://orcid.org/0000-0003-1264-6098)
Institutions
- Harvard University (US)
- University of Utah (US)
- The FRAM Centre (NO)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102222
- Primary Topic
- Healthcare Policy and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00