Article

Genome-wide prediction of disease variants with a deep protein language model

2022-08-26

Abstract excerpt

Distinguishing between damaging and neutral missense variants is an ongoing challenge in human genetics, with profound implications for clinical diagnosis, genetic studies and protein engineering. Recently, deep-learning models have achieved state-of-the-art performance in classifying variants as pathogenic or benign. However, these models are currently unable to provide predictions over all missense variants, eit...

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Literature Corpus work: 3df7f2b6-2c1a-5808-9eb1-36e3b56ce7b6
DOI: 10.1101/2022.08.25.505311

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