MaveRegistry
MaveRegistry coordinates sharing and tracking of multiplexed assays of variant effect (MAVE) projects to support generation and dissemination of variant effect maps for clinical interpretation of human genetic variation.
Key Features:
- Collaborative Resource: Centralized repository for sharing progress and project information on MAVE studies.
- Reduction of Redundancy: Provides visibility of ongoing projects to help avoid duplication of variant effect experiments.
- Target Nomination: Enables stakeholders to propose genomic regions or targets for MAVE investigation.
- Progress Tracking: Tracks status of MAVE projects to promote transparency and coordination across research groups.
Scientific Applications:
- Generation of variant effect maps: Supports systematic testing of single nucleotide and amino acid variants within selected genomic regions to produce variant effect maps.
- Clinical interpretation of genetic variation: Facilitates production and dissemination of functional evidence to inform clinical interpretation of human genetic variation.
- Coordination of MAVE research: Reduces duplicated efforts and aligns research priorities through stakeholder communication and transparent project tracking.
Methodology:
Web-based registry recording project nominations, ongoing project status, and shared project information for MAVE studies.
Topics
Details
- Tool Type:
- api
- Added:
- 1/18/2021
- Last Updated:
- 2/20/2021
Operations
Publications
Kuang D, Weile J, Kishore N, Rubin AF, Fields S, Fowler DM, Roth FP. MaveRegistry: a collaboration platform for multiplexed assays of variant effect. Unknown Journal. 2020. doi:10.1101/2020.10.14.339499.