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Article

Variant effect predictors: a systematic review and practical guide.

Human genetics - 1 May 2024

Riccio Cristian, Jansen Max L, Guo Linlin, Ziegler Andreas

Abstract excerpt

Large-scale association analyses using whole-genome sequence data have become feasible, but understanding the functional impacts of these associations remains challenging. Although many tools are available to predict the functional impacts of genetic variants, it is unclear which tool should be used in practice. This work provides a practical guide to assist in selecting appropriate tools for variant annotation....

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PMID: 38573379
DOI: 10.1007/s00439-024-02670-5
PMCID: PMC11098935

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