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MaveRegistry: a collaboration platform for multiplexed assays of variant effect

Da Kuang, Jochen Weile, Nishka Kishore, Maria Nguyen, Alan F. Rubin, Stanley Fields, Douglas M. Fowler, Frederick P. Roth

2021Bioinformatics27 citationsDOIOpen Access PDF

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.

Topics & Concepts

Computer scienceSource codeMultiplexingWorkflowComputational biologyNOMINATEData miningBiologyDatabaseMachine learningProgramming languageTelecommunicationsGenomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities
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