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

Bioinformatics (Oxford, England) - 2 Sept 2022

Chuah Aaron, Li Sean, Do Andrea, Field Matt, Andrews Dan

Abstract excerpt

SUMMARY: Missense mutations that change protein stability are strongly associated with human 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 genetic variation...

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PMID: 35801945
DOI: 10.1093/bioinformatics/btac465

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