MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays
2025; BioMed Central; Volume: 26; Issue: 1 Linguagem: Inglês
10.1186/s13059-025-03476-y
ISSN1474-760X
AutoresAlan F. Rubin, Jeremy Stone, Aisha Haley Bianchi, Benjamin J. Capodanno, Estelle Y. Da, Mafalda Dias, Daniel Esposito, Jonathan Frazer, Yunfan Fu, Sally Grindstaff, Matthew Harrington, Iris Li, Abbye E. McEwen, Joseph Min, Nick Moore, Olivia Moscatelli, Jesslyn Ong, Polina Polunina, Joshua E. Rollins, Nathan Rollins, Alexandra Snyder, Amy Tam, Matthew J. Wakefield, Shenyi “Sunny” Ye, Lea M. Starita, Vanessa L. Bryant, Debora S. Marks, Douglas M. Fowler,
Tópico(s)Genetic Associations and Epidemiology
ResumoAbstract 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.
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