MaveQuest: a web resource for planning experimental tests of human variant effects.
Bioinformatics. 2020 Apr 06;:
Authors: Kuang D, Weile J, Li R, Ouellette TW, Barber JA, Roth FP
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/.
PMID: 32251504 [PubMed - as supplied by publisher]