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Article

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

Genome medicine - 3 Dec 2024

Dawood Moez, Fayer Shawn, Pendyala Sriram, Post Mason, Kalra Divya, Patterson Karynne, Venner Eric, Muffley Lara A, Fowler Douglas M, Rubin Alan F, Posey Jennifer E, Plon Sharon E, Lupski James R, Gibbs Richard A, Starita Lea M, Robles-Espinoza Carla Daniela, Coyote-Maestas Willow, Gallego Romero Irene

Abstract excerpt

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 (VUS). METHODS: We analyzed clinical significance classifications in 213,663 individuals of European-like genetic ancestry...

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Topics

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Share to BRCA1 Protein
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to TP53 gene

Share to Genetic Variation

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Share to PTEN Phosphohydrolase

Share to Tumor Suppressor Protein p53

Source

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Identifiers

PMID: 39627863
DOI: 10.1186/s13073-024-01392-7
PMCID: PMC11616159

Genes

BRCA1
PTEN
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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