Summary

Fully realizing the promise of personalized medicine will require rapid and accurate classification of pathogenic human variation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible missense variants in selected gene targets. Planning a MAVE study involves identifying target genes with clinical impact, and identifying scalable functional assays for that target. Here we describe MaveQuest, a web-based resource enabling systematic variant effect mapping studies by identifying potential functional assays, disease phenotypes and clinical relevance for nearly all human genes.

Availability and implementation

MaveQuest service: https://mavequest.varianteffect.org/ MaveQuest source code: https://github.com/kvnkuang/mavequest-front-end/

中文翻译：

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MaveQuest：用于规划人类变异效应的实验测试的Web资源。

概要

充分实现个性化医学的希望将需要对致病性人类变异进行快速而准确的分类。变异效应的多重检测（MAVE）可以通过实验测试所选基因靶标中几乎所有可能的错义变异体。计划MAVE研究涉及鉴定具有临床影响的靶基因，并鉴定该靶的可扩展功能测定。在这里，我们描述了MaveQuest，这是一种基于Web的资源，可通过识别几乎所有人类基因的潜在功能分析，疾病表型和临床相关性，进行系统的变异效果图研究。

可用性和实施

MaveQuest服务：https://mavequest.varianteffect.org/ MaveQuest源代码：https://github.com/kvnkuang/mavequest-front-end/