Article

StabilitySort: assessment of protein stability changes on a genome-wide scale to prioritise potentially pathogenic genetic variation

2021-12-02

Abstract excerpt

<h4>Summary</h4> Missense mutations that change protein stability are strongly associated with human inherited genetic disease. With the recent availability of predicted structures for all human proteins generated using the AlphaFold2 prediction model, genome-wide assessment of the stability effects of genetic variation can, for the first time, be easily performed. This facilitates the interrogation of personal g...

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Literature Corpus work: acda1828-f299-5e4c-bf8e-0936220ed0f8
DOI: 10.1101/2021.11.28.470298

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