MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
Details
Publication Year 2025-01-21,Volume 26,Issue #1,Page 13
Journal Title
Genome Biology
Abstract
Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.org/ ) with four key improvements to the MAVE community's database of record: more available data including over 7 million variant effect measurements, an improved data model supporting assays such as saturation genome editing, new built-in exploration and visualization tools, and powerful APIs for data federation and streamlined submission and access. Together these changes support MaveDB's role as a hub for the analysis and dissemination of MAVEs now and into the future.
Publisher
BMC
Keywords
*Databases, Genetic; Humans; *Genetic Variation; Data Curation; Software; Dms; Deep mutational scanning; Functional genomics; MAVEs; Multiplexed assays of variant effect; Variant classification
Research Division(s)
Bioinformatics and Computational Biology
PubMed ID
39838450
Open Access at Publisher's Site
https://doi.org/ 10.1186/s13059-025-03476-y
Terms of Use/Rights Notice
Refer to copyright notice on published article.


Creation Date: 2025-02-07 11:22:12
Last Modified: 2025-02-07 11:24:04
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