Article

Community co-designed workshops build confidence in use of functional evidence for variant classification

2025-11-13

Abstract excerpt

<h4>Purpose</h4> To increase diagnostic yield from genomic testing, it is essential to improve the use of experimental data as functional evidence in variant classification. Recent work suggests building confidence of those performing functional data evaluation may improve their capability to use functional evidence. We present a solution to develop confidence and build capability while supporting practice develo...

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Literature Corpus work: c0cec724-be57-5b3d-a858-8de8a22a25b0
DOI: 10.1101/2025.11.10.25339935

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