Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access
Although reclassification rates were not found to be associated with REA group, not all REA groups had the same access to ES reanalysis. Laboratory-initiated proactive reanalysis can help reduce disparities in ES diagnostic utility by reducing barriers to accessing reanalysis.
Authors
- Kimberly Zayhowski (ORCID: https://orcid.org/0000-0003-1712-6403)
- John Michael O. Rañola (ORCID: https://orcid.org/0000-0001-6177-4227)
- Maggie Ruderman (ORCID: https://orcid.org/0000-0003-3103-7765)
- Meghan C. Towne (ORCID: https://orcid.org/0000-0001-9460-2368)
- Grace E. VanNoy (ORCID: https://orcid.org/0000-0003-1257-9702)
- A Giles
Institutions
- Boston University (US)
- Boston Medical Center (US)
- Ambry Genetics (United States) (US)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1016/j.gim.2025.101576
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00