Genome Biology (Jan 2025)
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 B. Grindstaff,
- Matthew R. Harrington,
- Iris Li,
- Abbye E. McEwen,
- Joseph K. Min,
- Nick Moore,
- Olivia G. Moscatelli,
- Jesslyn Ong,
- Polina V. Polunina,
- Joshua E. Rollins,
- Nathan J. Rollins,
- Ashley E. Snyder,
- Amy Tam,
- Matthew J. Wakefield,
- Shenyi Sunny Ye,
- Lea M. Starita,
- Vanessa L. Bryant,
- Debora S. Marks,
- Douglas M. Fowler
Affiliations
- Alan F. Rubin
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Jeremy Stone
- Brotman Baty Institute for Precision Medicine
- Aisha Haley Bianchi
- Department of Genome Sciences, University of Washington
- Benjamin J. Capodanno
- Brotman Baty Institute for Precision Medicine
- Estelle Y. Da
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Mafalda Dias
- Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology
- Daniel Esposito
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Jonathan Frazer
- Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology
- Yunfan Fu
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Sally B. Grindstaff
- Brotman Baty Institute for Precision Medicine
- Matthew R. Harrington
- Department of Genome Sciences, University of Washington
- Iris Li
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Abbye E. McEwen
- Brotman Baty Institute for Precision Medicine
- Joseph K. Min
- Department of Genome Sciences, University of Washington
- Nick Moore
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Olivia G. Moscatelli
- Department of Medical Biology, University of Melbourne
- Jesslyn Ong
- Immunology Division, Walter and Eliza Hall Institute of Medical Research
- Polina V. Polunina
- Bioinformatics Group, Department of Computer Science, University of Freiburg
- Joshua E. Rollins
- Department of Computer Science, The Graduate Center, The City University of New York
- Nathan J. Rollins
- Seismic Therapeutics
- Ashley E. Snyder
- Brotman Baty Institute for Precision Medicine
- Amy Tam
- Department of Systems Biology, Harvard Medical School
- Matthew J. Wakefield
- Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research
- Shenyi Sunny Ye
- Department of Genome Sciences, University of Washington
- Lea M. Starita
- Brotman Baty Institute for Precision Medicine
- Vanessa L. Bryant
- Department of Medical Biology, University of Melbourne
- Debora S. Marks
- Department of Systems Biology, Harvard Medical School
- Douglas M. Fowler
- Brotman Baty Institute for Precision Medicine
- DOI
- https://doi.org/10.1186/s13059-025-03476-y
- Journal volume & issue
-
Vol. 26,
no. 1
pp. 1 – 11
Abstract
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.
Keywords
- Multiplexed assays of variant effect
- MAVEs
- Deep mutational scanning
- DMS
- Variant classification
- Functional genomics
