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...

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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2024-12-01
Colección:	Genome Medicine
Materias:	MAVE Multiplexed assay of variant effects Variants of uncertain significance VUS Pathogenic Benign
Acceso en línea:	https://doi.org/10.1186/s13073-024-01392-7
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