Defining an approach to empower clinical geneticists to do genomic reanalysis
Rapid reanalysis by clinicians could increase the yield of genetic diagnosis with minimal effort and no new lab expenses. For the routine cases at St. George's, diagnostic yield increased from 7 to 10 (43%). Capabilities that could further increase yield include joint variant calling, robust phenotyping, clinical correlation after sequencing, and adding CNV data to variant tables.
Authors
- Kimberly Ezell (ORCID: https://orcid.org/0009-0005-7200-7644)
- Undiagnosed Diseases Network
- Lynette Rives
- Mary Grace Hash (ORCID: https://orcid.org/0000-0002-1675-9404)
- Anthony S. Rogers
- Andrea Haworth
- John A Phillips
- Brian J. King
- John Short
- John Filby
- Alexander T. Deng
- Michael M. Segal
- Meriel McEntagart
Institutions
- Guy's and St Thomas' NHS Foundation Trust (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Amgen (United Kingdom) (GB)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2026-01-05
- DOI
- https://doi.org/10.1186/s12920-025-02293-3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00