Article

The performance of in silico prediction tools for variant curation in a panel of cancer genes.

2025-07-30

Abstract excerpt

Rare single base pair changes in genes are an important cause of disease, as they can reside in key regions of the gene influencing biological function by impacting the protein conformation and protein interactions. Generation of the necessary experimental evidence to define the outcome of the presence of these gene variants is time consuming and costly. These challenges have led to the development of a plethora o...

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Literature Corpus work: 731c3fec-3d7b-501c-9475-25a5a9d004bc
DOI: 10.1101/2025.07.29.25331316

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