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Learning sequence to predict gain- or loss-of-function variants

2025-06-06

Abstract excerpt

<title>Abstract</title> <p>A clear understanding of mutational effects can advance genetics and biomedical research by providing valuable insights into gene functions, disease mechanisms, and therapeutic approaches. However, methods to determine the pathogenicity of genetic variants are limited by the absence of information on the direction of mutational effects. Here, we present ClearVariant, a deep learning sys...

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Literature Corpus work
edf5cd5e-c9b1-53b6-83e7-d0ca66eb9e8f
DOI
10.21203/rs.3.rs-6705195/v1
Open publication

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Learning sequence to predict gain- or loss-of-function variantsDOI 10.21203/rs.3.rs-6705195/v1
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