Nona Sotoodehnia

cpiVAE improves cross-platform proteomics imputation between Olink and SomaScan, achieving higher correlation than KNN and WNN, and enabling better phenotype associations.

This study shows that a polygenic risk score for coronary artery disease is associated with more severe atherosclerosis features in autopsy samples of sudden death cases.

The paper identifies impactful rare variants by integrating multi-omic data from MESA, showing that combining expression and protein data increases the detection of rare stop and frameshift variants.

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

The paper integrates DNA methylation with clinical risk factors to improve mortality prediction, identifying CpG biomarkers associated with all-cause, cardiovascular, and cancer mortality.

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

This study identifies DNA methylation sites associated with coffee and tea consumption using EWAS, finding potential links to fatty liver disease through PHGDH expression.

This study identifies new genetic loci associated with myocardial infarction and coronary heart disease using genome-wide association analyses across multiple cohorts.

This study identifies CpGs associated with mtDNA-CN and shows they influence disease-related phenotypes through nDNA methylation and gene expression changes.

This study investigates the association between mitochondrial DNA copy number and risk of atrial fibrillation in three cohorts, finding an inverse relationship after adjustment for traditional risk factors.

The paper examines how sex and underlying disease influence the genetic link between prolonged QT interval and sudden cardiac death risk using logistic regression and Mendelian randomization.

The paper identifies allele-specific NKX2-5 binding variants associated with EKG traits by integrating iPSC-CM data and GWAS, showing their role in heart rate loci and cardiac enhancer activity.

This study conducts a GWAS on QRS duration in Hispanic/Latino populations, identifying two new loci and confirming most previously known SNPs.

This study identifies nine novel DNA methylation sites associated with fasting glucose and insulin levels by integrating cross-omics data from multiple cohorts.

The paper identifies DNA methylation sites associated with daytime sleepiness in African Americans using epigenome-wide association analysis in the Multi-Ethnic Study of Atherosclerosis.

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.