Eloisa Arbustini

This study uses deep learning to derive image phenotypes from cardiac MRI and performs GWAS, identifying 323 SNPs and 628 genes associated with cardiac traits and diseases.

The paper identifies a SNP in lncRNA H19 that alters its secondary structure and is associated with Dilated Cardiomyopathy, suggesting structural changes in lncRNAs may explain hidden genetic variance.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.