Article
MaveDB 2024: a curated community database with over seven million variant effects from multiplexed functional assays.
Genome biology - 21 Jan 2025
Rubin Alan F, Stone Jeremy, Bianchi Aisha Haley, Capodanno Benjamin J, Da Estelle Y, Dias Mafalda, Esposito Daniel, Frazer Jonathan, Fu Yunfan, Grindstaff Sally B, Harrington Matthew R, Li Iris, McEwen Abbye E, Min Joseph K, Moore Nick, Moscatelli Olivia G, Ong Jesslyn, Polunina Polina V, Rollins Joshua E, Rollins Nathan J, Snyder Ashley E, Tam Amy, Wakefield Matthew J, Ye Shenyi Sunny, Starita Lea M, Bryant Vanessa L, Marks Debora S, Fowler Douglas M
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
- Humans
- Databases, Genetic
- Genetic Variation