Priya N. Marathe

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

This study compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.