Article

Defining and Reducing Variant Classification Disparities

2024-04-12

Abstract excerpt

<h4>Background</h4> Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style data may help resolve variant classification disparities between populations, especially for variants of uncertain significance (VUS). <h4>Methods</h4> We analyzed clinical significance classifications in 213,663 individuals of European-like genetic ancestry...

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Literature Corpus work: 258a494b-5ffd-5dc6-83a6-b1ba9cd7ce8a
DOI: 10.1101/2024.04.11.24305690

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