Article

Performance of a Protein Language Model for Variant Annotation in Cardiac Disease

2024-06-05

Abstract excerpt

<h4>Introduction</h4> Genetic testing is a cornerstone in the assessment of many cardiac diseases. However, variants are frequently classified as Variants of Unknown Significance (VUS), limiting the utility of testing. Recently, the DeepMind group (Google, USA) developed AlphaMissense, a unique Artificial Intelligence (AI) based model, based on language model principles for the prediction of missense variant patho...

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Literature Corpus work: 08f8587a-9231-598d-b914-32650311bddb
DOI: 10.1101/2024.06.04.24308460

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