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MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays

Alan F. Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J. Capodanno, Estelle Y. Da, Mafalda Dias, Daniel Esposito, Jonathan Frazer, Yunfan Fu, Sally Grindstaff, Matthew R. Harrington, Iris Li, Abbye E. McEwen, Joseph Min, Nick Moore, Olivia Moscatelli, Jesslyn Ong, Polina Polunina, Joshua E. Rollins, Nathan Rollins, Ashley E. Snyder, Amy Tam, Matthew J. Wakefield, Shenyi “Sunny” Ye, Lea M. Starita, Vanessa L. Bryant, Debora S. Marks, Douglas M. Fowler

2025Genome biology66 citationsDOIOpen Access PDF

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.

Topics & Concepts

BiologyVisualizationComputational biologyKey (lock)Data scienceGenomeHuman geneticsDatabaseData visualizationComputer scienceGeneticsData miningGeneEcologyEvolution and Genetic DynamicsGenomics and Rare DiseasesGenetic Associations and Epidemiology
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays | Litcius