Variant effects on protein-protein interactions: methods, models and diseases

TL;DR

This paper reviews recent experimental and computational methods for assessing how genetic variants affect protein-protein interactions, highlighting challenges and potential for therapeutic insights.

Contribution

It provides a comprehensive overview of current techniques and challenges in studying variant effects on protein interactions, integrating structural and functional perspectives.

Findings

Summarizes recent experimental techniques

Discusses computational models and limitations

Highlights future challenges in the field

Abstract

Advances in sequencing have revealed that each individual carries about 10,000 missense variants. For the vast majority, we do not know what the functional consequences - if any - will be. Further, mechanistic insight, such as structural details, would be immensely helpful in development of therapeutic approaches. Here we review recent developments in experimental and computational techniques aimed to assess the impact of variants on protein-protein interactions, including limitations and upcoming challenges.