Evaluating variant pathogenicity prediction tools to establish African inclusive guidelines for germline genetic testing

Abstract Background Genetic germline testing is restricted for African patients. Lack of ancestrally relevant genomic data perpetuated by African diversity has resulted in European-biased curated clinical variant databases and pathogenic prediction guidelines. While numerous variant pathogenicity pr...

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Bibliographic Details
Main Authors: Kangping Zhou, Kazzem Gheybi, Pamela X. Y. Soh, Vanessa M. Hayes
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Communications Medicine
Online Access:https://doi.org/10.1038/s43856-025-00883-x
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