Spatial Genomics of the Cardiac Sarcomere

Structural biology · AlphaFold · Cluster analysis

This project, conducted at Stanford University in the lab of Professor Euan Ashley, develops a new framework to integrate clinical genomics (17,000+ patients), population-scale sequencing data, and structural models of sarcomeric proteins. Using spatial clustering and AI-based pathogenicity predictors such as AlphaMissense, we identified novel variant hotspots that inform disease mechanisms in hypertrophic cardiomyopathy.

Protein structure with variant hotspots

3D sarcomere structure highlighting novel variant hotspots (orange)

Preprint Code (coming soon)