Article

Variant effect predictor correlation with functional assays is reflective of clinical classification performance

2024-05-14

Abstract excerpt

<h4>Background</h4> Understanding the relationship between protein sequence and function is crucial for accurate genetic variant classification. Variant effect predictors (VEPs) play a vital role in deciphering this complex relationship, yet evaluating their performance remains challenging for several reasons including data circularity, where the same or related data is used for training and assessment. High-thro...

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Literature Corpus work: 945c0914-9c8b-5a06-8fa3-b01eb117827d
DOI: 10.1101/2024.05.12.593741

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