Kaavya Paruchuri

The paper evaluates individual-level performance of polygenic risk scores (PRSs) using a benchmark cohort of early-onset coronary artery disease patients, showing variability in PRS accuracy and highlighting the need for individual-level validation.

This paper constructs phenome-derived polygenic scores and evaluates how they, along with social determinants of health, influence disease risk across different populations and diseases.

The paper analyzes genetic, ancestral, and geospatial data from a biobank to explore their relationships with health outcomes in a historically diverse population.

This study identifies a genetic variant near HLA-DQB1 associated with lower triglycerides in type 2 diabetes but not in non-diabetic individuals, suggesting immune-related mechanisms.

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

This study shows that clonal hematopoiesis, especially with DDR gene mutations, increases the risk of peripheral artery disease and atherosclerosis.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.