变异效应预测器发布指南

Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M. McCandlish, Rose Orenbuch, Courtney A. Shearer, Lara Muffley, Julia Foreman, Andrew M. Glazer, Ben Lehner, Debora S. Marks, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Joseph A. Marsh
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引用次数: 0

摘要

用于评估突变可能产生的影响的计算方法,即变异效应预测器(VEPs),被广泛应用于人类遗传变异的评估和解释,以及蛋白质工程等其他应用领域。迄今为止,已经发布了许多不同的 VEP,其基本算法和输出结果以及共享方法和预测结果的方式存在巨大差异。这给终端用户带来了巨大的挑战,他们不知道该使用哪种 VEP 以及如何使用它们。在此,为了解决这些问题,我们为新型 VEP 的发布提供了指南和建议。我们强调开源可用性、透明的方法学、清晰的变异效应得分解释、标准化的量表、可访问的预测以及严谨的数据披露,旨在提高 VEP 的可用性和可解释性,并促进其与分析和评估流水线的整合。
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Guidelines for releasing a variant effect predictor
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 to date, and there is tremendous variability in their underlying algorithms and outputs, and in the ways in which the methodologies and predictions are shared. This leads to considerable challenges for end users in knowing which VEPs to use and how to use them. Here, to address these issues, we provide guidelines and recommendations for the release of novel VEPs. Emphasising open-source availability, transparent methodologies, clear variant effect score interpretations, standardised scales, accessible predictions, and rigorous training data disclosure, we aim to improve the usability and interpretability of VEPs, and promote their integration into analysis and evaluation pipelines. We also provide a large, categorised list of currently available VEPs, aiming to facilitate the discovery and encourage the usage of novel methods within the scientific community.
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