Shaan S. Khurshid

Genetics of Myocardial Interstitial Fibrosis in the Human Heart and Association with Disease

The paper uses machine learning to analyze myocardial T1 time in UK Biobank data, identifying genetic loci and pathways associated with interstitial fibrosis and related cardiovascular diseases.

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

Genetic Analysis of Right Heart Structure and Function in 40,000 People

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

Cross-Modal Autoencoder Framework Learns Holistic Representations of Cardiovascular State

This paper develops a cross-modal autoencoder framework to integrate cardiac MRI and ECG data, improving phenotype prediction and enabling MRI imputation from ECGs.

Deep learning enables genetic analysis of the human thoracic aorta

This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.