Article

Validating folding energy estimates as a method for variant interpretation

2025-11-10

Abstract excerpt

Interpretation of variants of uncertain significance remains a major problem in genomic analysis. Whilst statistical models can be used to predict pathogenicity, they offer no insights into the biophysical mechanism of variant action, and genomic data available for training is biased towards the subpopulations who have access. Protein misfolding has been found to act as a frequent mechanism for loss of gene or dom...

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Literature Corpus work: 68c6389f-9218-582e-aadc-5ac561b07ecb
DOI: 10.1101/2025.11.09.687451

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