Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Abstract Background Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style functional data may help resolve variant classification disparities between populations, especially for Variants of Uncertain Significance (VU...

Full description

Saved in:
Bibliographic Details
Main Authors: Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Genome Medicine
Subjects:
MAVE
Multiplexed assay of variant effects
Variants of uncertain significance
VUS
Pathogenic
Benign
Online Access:https://doi.org/10.1186/s13073-024-01392-7
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doi.org/10.1186/s13073-024-01392-7

Similar Items