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Updated: Sep 5, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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StabilitySort: assessment of protein stability changes on a genome-wide scale to prioritize potentially pathogenic

Aaron Chuah1, Sean Li1, Andrea Do1

  • 1Genome Informatics Laboratory, Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.

Bioinformatics (Oxford, England)
|July 8, 2022
PubMed
Abstract

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