Nicholas A. Vulpescu

The paper identifies widespread mosaic structural variants in normal human tissues and tumors, with repeat-mediated variants impacting functional elements and enabling noninvasive tumor monitoring through cell-free DNA.

The paper introduces the Effector Index, an algorithm to predict causal genes at GWAS loci using genomic features, achieving 85% AUC in type 2 diabetes validation.

This paper identifies 518 genetic loci associated with bone mineral density and fracture risk, validates causal genes in mice, and provides insights for osteoporosis drug development.