P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation
Conclusion: This evolving process is creating uncertainty in point-of-care decision-making, driven by current evidence and evolving standards.Our data indicated that variant reclassification could be considered the first-tier approach for undiagnosed diseases before exploring other advanced technologies.Additional family studies can significantly enhance the success rate of VUS reclassification by providing de novo status and co-segregation data, which should be actively considered for patients with VUS.Follow-up reclassification is recommended within five years.
Authors
- Kierstin Keller
- Xiaowu Gai (ORCID: https://orcid.org/0000-0001-8679-9703)
- Marie T. Lott (ORCID: https://orcid.org/0000-0003-2035-479X)
- Shamima Rahman (ORCID: https://orcid.org/0000-0003-2088-730X)
- Zarazuela Zolkipli‐Cunningham (ORCID: https://orcid.org/0000-0002-0743-8879)
- Elizabeth M. McCormick (ORCID: https://orcid.org/0000-0002-5478-8046)
- Marni J. Falk (ORCID: https://orcid.org/0000-0002-1723-6728)
- Douglas C. Wallace (ORCID: https://orcid.org/0000-0002-7480-8278)
- Colleen Muraresku (ORCID: https://orcid.org/0000-0003-0045-1664)
- Li Shen (ORCID: https://orcid.org/0000-0002-0436-0199)
Institutions
- Children's Hospital of Philadelphia (US)
- Children's Hospital of Los Angeles (US)
- Medical College of Wisconsin (US)
- Institute of Child Health (IN)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103073
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81