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Updated: Dec 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
MaveQuest: a web resource for planning experimental tests of human variant effects
Da Kuang1,2,3,4, Jochen Weile1,2,3,4, Roujia Li1,2,3,4
1Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada.
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 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 protein-coding genes.
Availability And Implementation:
MaveQuest service: https://mavequest.varianteffect.org/. MaveQuest source code: https://github.com/kvnkuang/mavequest-front-end/.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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