Article

Accurate Identification and Mechanistic Evaluation of Pathogenic Missense Variants with <i>Rhapsody-2</i>

2025-02-22

Abstract excerpt

Understanding the effects of missense mutations or single amino acid variants (SAVs) on protein function is crucial for elucidating the molecular basis of diseases/disorders and designing rational therapies. We introduce here Rhapsody-2, a machine learning tool for discriminating pathogenic and neutral SAVs, significantly expanding on a precursor limited by the availability of structural data. With the advent of A...

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Literature Corpus work: ed8c33f0-91e1-54a5-afae-758e937704e1
DOI: 10.1101/2025.02.17.638727

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