MaveRegistry: a collaboration platform for multiplexed assays of variant effect
Journal Title
Bioinformatics
Publication Type
epub ahead of print
Abstract
SUMMARY: Multiplexed assays of variant effect (MAVEs) are capable of experimentally testing all possible single nucleotide or amino acid variants in selected genomic regions, generating 'variant effect maps', which provide biochemical insight and functional evidence to enable more rapid and accurate clinical interpretation of human variation. Because the international community applying MAVE approaches is growing rapidly, we developed the online MaveRegistry platform to catalyze collaboration, reduce redundant efforts, allow stakeholders to nominate targets, and enable tracking and sharing of progress on ongoing MAVE projects. AVAILABILITY AND IMPLEMENTATION: MaveRegistry service: https://registry.varianteffect.org. MaveRegistry source code: https://github.com/kvnkuang/maveregistry-front-end.
Publisher
Oxford Academic
WEHI Research Division(s)
Bioinformatics
PubMed ID
33774657
Open Access at Publisher's Site
https://doi.org/10.1093/bioinformatics/btab215
Rights Notice
Refer to copyright notice on published article.


Creation Date: 2021-03-31 11:12:10
Last Modified: 2021-03-31 11:25:36
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