Cynthia L. Neben

The paper describes the process of obtaining an FDA IDE for returning genomic results via WGS in the All of Us Research Program and presents validation results.

The paper examines how polygenic risk modifies the penetrance of monogenic variants in coronary artery disease, breast cancer, and colorectal cancer across multiple cohorts.

Color Data v2 provides an updated open-access database with genetic and phenotypic data on hereditary cancer and cardiovascular conditions, including polygenic risk scores and clinical risk models.

This study shows low coverage whole genome sequencing can accurately assess common variants and calculate polygenic scores, comparable to genotyping arrays.