MaveRegistry: a collaboration platform for multiplexed assays of variant effect

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• Multiplexed assays of variant effect (MAVEs) offer a powerful method for systematically assessing the functional impact of genetic variations.
• Variant effect maps generated by MAVEs provide crucial biochemical and functional data for understanding human variation.
• The increasing global adoption of MAVE approaches necessitates standardized platforms for data sharing and project coordination.

Purpose of the Study:

• To introduce the MaveRegistry platform, an online resource designed to support the growing international community utilizing MAVE approaches.
• To facilitate collaboration, minimize redundant research efforts, and enable efficient tracking of ongoing MAVE projects.
• To provide a centralized hub for nominating MAVE targets and sharing project progress.

Main Methods:

• Development of the MaveRegistry online platform (https://registry.varianteffect.org).
• Implementation of features for target nomination, progress tracking, and data sharing among MAVE researchers.
• Provision of open-source code (https://github.com/kvnkuang/maveregistry-front-end) for platform transparency and potential community contributions.

Main Results:

• The MaveRegistry platform is established to serve the international MAVE community.
• The platform is designed to catalyze collaboration and reduce duplicated efforts in variant effect mapping.
• Stakeholders can nominate targets and monitor the progress of MAVE projects through the registry.

Conclusions:

• MAVEs are essential for generating variant effect maps that aid in the clinical interpretation of human genetic variation.
• The MaveRegistry platform is a critical resource for fostering collaboration and efficiency in the rapidly expanding field of MAVE research.
• The platform aims to accelerate the pace of discovery and application of MAVE-derived functional data in clinical settings.