MaveQuest: a web resource for planning experimental tests of human variant effects.
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ABSTRACT: 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.
SUBMITTER: Kuang D
PROVIDER: S-EPMC7320626 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Publications
MaveQuest: a web resource for planning experimental tests of human variant effects.
Kuang Da D Weile Jochen J Li Roujia R Ouellette Tom W TW Barber Jarry A JA Roth Frederick P FP
Bioinformatics (Oxford, England) 20200601 12
<h4>Summary</h4>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 mappin ...[more]
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