Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing
Although VPPT sensitivity favours European data, our findings provide guidelines for VPPT selection to maximise rare pathogenic variant prediction for African disease studies.
Authors
- Pamela X. Y. Soh (ORCID: https://orcid.org/0000-0002-8485-6556)
- Kangping Zhou
- Vanessa M. Hayes (ORCID: https://orcid.org/0000-0002-4524-7280)
- Kazzem Gheybi (ORCID: https://orcid.org/0000-0001-8557-3649)
Institutions
- The University of Sydney (AU)
- Cancer Research UK Manchester Institute (GB)
- University of Pretoria (ZA)
Publication Details
- Journal
- Communications Medicine
- Published
- 2025-05-06
- DOI
- https://doi.org/10.1038/s43856-025-00883-x
- Citations
- 3
- Primary Topic
- Cancer Genomics and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 2.81
Funders
- Prostate Cancer Foundation
- University of Pretoria
- University of Sydney
- Petre Foundation
- National Institutes of Health
- University of Illinois at Urbana-Champaign
- Medical Research Council
- National Health and Medical Research Council
- Sydney Medical School
- National Cancer Institute
- Congressionally Directed Medical Research Programs
- DOD Prostate Cancer Research Program