Article

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

2025-01-27

Abstract excerpt

<h4>Introduction: </h4> Variant-level functional data is a core component of clinical variant classification and can aid in reinterpreting variants of uncertain significance (VUS). However, the usage of functional data by genetics professionals is currently unknown. <h4>Methods:</h4> An online survey was developed and distributed in spring of 2024 to individuals actively engaged in variant interpretation. Quantita...

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Literature Corpus work: 579b4e85-08bb-5e45-b535-272fce82667d
DOI: 10.1101/2025.01.25.25321117

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