John Baierl

This paper introduces S4-Oligo, an optimized polygenic score method for clinical use, which matches or exceeds existing models' accuracy while using fewer SNPs.

The paper uses saturation genome editing to assess the functional impact of RAD51D and XRCC2 variants, showing high accuracy in distinguishing pathogenic from benign variants.

The paper evaluates EHR-based phenotyping accuracy in the All of Us Research Program to optimize statistical power for genetic association testing, finding disparities in accuracy across racial groups.

S4-Multi improves polygenic score prediction across diverse ancestries by reducing genetic variants while maintaining accuracy in non-European populations.

This study uses exome sequencing to identify HELB as a novel susceptibility gene for non-high grade serous epithelial ovarian cancer, with a strong association found in genetic analyses.