MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
- Author(s)
- Rubin, AF; Stone, J; Bianchi, AH; Capodanno, BJ; Da, EY; Dias, M; Esposito, D; Frazer, J; Fu, Y; Grindstaff, SB; Harrington, MR; Li, I; McEwen, AE; Min, JK; Moore, N; Moscatelli, OG; Ong, J; Polunina, PV; Rollins, JE; Rollins, NJ; Snyder, AE; Tam, A; Wakefield, MJ; Ye, SS; Starita, LM; Bryant, VL; Marks, DS; Fowler, DM;
- 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
- Publisher's Version
- https://doi.org/10.1186/s13059-025-03476-y
- 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