Article
A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss Genetics
2025-11-27
Abstract excerpt
<h4>Background</h4> Advances in sequencing and standardized guidelines for variant classification have improved genetic diagnostics, but a large proportion of variants, particularly in genetically heterogeneous disorders such as hearing and vision loss, remain of uncertain significance. Although emerging multiplexed assays of variant effects (MAVEs) offer a solution to resolve these uncertainties, their integrati...
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Identifiers and source
- Literature Corpus work
- cfc8d133-419f-59d8-a675-c406b139ae80
- DOI
- 10.1101/2025.11.25.25339647