Daniel J. Schaid

The paper uses a polygenic risk score for colorectal cancer in a PheWAS to find genetic correlations with other phenotypes from electronic health records.

This study evaluates polygenic risk scores (PRS) for ASCVD subtypes across diverse ancestry groups, finding that multi-ancestry and multi-trait PRS perform best, with CHD and AAA scores outperforming IS and PAD.

The paper assesses the joint impact of polygenic risk and social determinants of health on coronary heart disease in the US using the All of Us dataset.

The paper identifies epistatic SNP-SNP interactions in long-range LD across five diseases using UK Biobank and eMERGE data, finding associations involving conserved genes and essential genes.

This study evaluates how ancestry, GWAS sample size, and LD reference panels affect BMI PRS performance across different age groups and ancestries.

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

This paper evaluates how sample size affects polygenic hazard score models for prostate cancer, finding that 20-30k samples are needed for discovery models, but 10k suffice if SNPs are pre-established.

The paper evaluates a polygenic hazard score for prostate cancer screening, showing it improves positive predictive value by adjusting screening age based on genetic risk.

Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.