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April 15, 2025Genome biology28 citationsOpen Access

Guidelines for releasing a variant effect predictor

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BLBenjamin LiveseyMBMihaly BadonyiMDMafalda Dias

Key Points

  • The guidelines aim to simplify the selection of variant effect predictors.
  • Significant variability in algorithms and outputs creates difficulties for users.
  • Recommendations focus on methodologies for sharing predictions effectively and uniformly in the community of genetic analysis and protein engineering.  This guidance may help mitigate confusion and enhance the usability of variant effect predictors.

Abstract

Abstract Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering. Many different VEPs have been released, and there is tremendous variability in their underlying algorithms, outputs, and the ways in which the methodologies and predictions are shared. This leads to considerable difficulties for users trying to navigate the selection and application of VEPs. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs.

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Cite This Study

Livesey et al. (2025) studied this question.

synapsesocial.com/papers/68e55b4ce2b3180350ef894bhttps://doi.org/10.1186/s13059-025-03572-z
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