Article

Protein Language Models Rescue Variant Pathogenicity Prediction in Intrinsically Disordered Regions Through Synergistic Integration with Structure-Based Methods

2026-02-04

Abstract excerpt

<title>Abstract</title> <p>Background Variants of Uncertain Significance (VUS) represent a critical bottleneck in clinical genetics, with 20–41% of genetic test results yielding inconclusive VUS classifications. Current computational prediction tools, including AlphaMissense, achieve incomplete coverage and show systematic weaknesses in intrinsically disordered protein regions where traditional structure-based f...

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Literature Corpus work: 458b37a9-bf6a-507a-97e1-8f873b0d6c2d
DOI: 10.21203/rs.3.rs-8735672/v1

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