Mapping MAVE data for use in human genomics applications.

ABSTRACT:

Background

Experimental data from functional assays have a critical role in interpreting the impact of genetic variants. Assay data must be unambiguously mapped to a reference genome to make it accessible, but it is often reported relative to assay-specific sequences, complicating downstream use and integration of variant data across resources. To make multiplexed assays of variant effect (MAVE) data more broadly available to the research and clinical communities, the Atlas of Variant Effects Alliance mapped MAVE data from the MaveDB community database to human reference sequences, creating an extensive set of machine-readable homology mappings that are incorporated into widely used human genomics applications.

Results

Here, we map approximately 9.0 million individual protei

SUBMITTER: Arbesfeld JA 

PROVIDER: S-EPMC12188674 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature