Article

Multimodal framework to resolve variants of uncertain significance in <i>TSC2</i>

2024-06-08

Abstract excerpt

Efforts to resolve the functional impact of variants of uncertain significance (VUS) have lagged behind the identification of new VUS; as such, there is a critical need for scalable VUS resolution technologies. Computational variant effect predictors (VEPs), once trained, can predict pathogenicity for all missense variants in a gene, set of genes, or the exome. Existing tools have employed information on known pat...

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Literature Corpus work: daa7bb1b-4520-54d2-ae51-751c07e0b17e
DOI: 10.1101/2024.06.07.597916

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