Article

Classifying disease-associated variants using measures of protein activity and stability

2019-07-01

Abstract excerpt

Decreased cost of human exome and genome sequencing provides new opportunities for diagnosing genetic disorders, but we need better and more robust methods for interpreting sequencing results including determining whether and by which mechanism a specific missense variants may be pathogenic. Using the protein PTEN (phosphatase and tensin homolog) as an example, we show how recent developments in both experiments a...

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Identifiers and source

Literature Corpus work: eb99c4b5-1b0c-53a4-8ee6-7044e3261b40
DOI: 10.1101/688234

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