MaveDB

MaveDB provides a repository for datasets from multiplexed assays of variant effect (MAVEs), facilitating distribution and interpretation of deep mutational scanning (DMS) and massively parallel reporter assay (MPRA) results to support analysis of sequence variant impacts.

Key Features:

• Dataset storage: Stores MAVE datasets including results from deep mutational scanning (DMS) and massively parallel reporter assays (MPRA).
• Variant effect maps: Hosts variant effect maps derived from MAVE studies for downstream analysis.
• Integration with MaveVis: Integrates with MaveVis to enable retrieval, visualization, and contextualization of variant effect maps.
• Interoperability: Serves as an interoperable platform for discovery and distribution of large-scale measurements of sequence variant impact.

Scientific Applications:

• Basic research: Facilitates investigation of the functional consequences of genetic variation in experimental studies.
• Clinical interpretation: Provides functional evidence to inform clinical interpretation of genetic variants.
• High-throughput variant assessment: Supports analysis of datasets generated by assays that test thousands of sequence variants in a single experiment.

Methodology:

Hosts datasets derived from multiplexed assays of variant effect, specifically deep mutational scanning (DMS) and massively parallel reporter assays (MPRA), and integrates with MaveVis for retrieval, visualization, and contextualization of variant effect maps.