Article

Systematic identification of disease-associated 3D neighborhoods in protein structures

2026-06-02

Abstract excerpt

Rare variant association studies (RVAS) have identified hundreds of genes contributing to human disease, yet gene-level signals provide limited insight into the molecular mechanisms underlying pathogenicity. Missense variants, which can be mapped onto three-dimensional protein structures, offer an opportunity to gain novel mechanistic insights. Here, we develop a scalable framework for systematically mapping case...

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Literature Corpus work: d0401bba-504c-5a04-8eb4-fd4fbc823391
DOI: 10.64898/2026.05.29.26354366

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