Thomas J. Hoffmann

This study evaluates genetic ancestry report concordance across providers, compares ancestry to self-identified race/ethnicity, and explores perspectives on integrating ancestry data into EHRs.

The paper identifies genes regulating blood pressure by analyzing enhancer variants and integrating epigenomic data with genotype-phenotype associations across multiple tissues.

This study identifies 447 new genetic variants associated with prostate-specific antigen levels across multiple ancestries and shows improved cross-ancestry prediction of PSA, with implications for personalized prostate cancer screening.

This study develops a polygenic score to adjust PSA levels, improving the detection of aggressive prostate cancer while reducing unnecessary biopsies.

This study identifies common genetic variation associated with Mendelian disease severity using cryptic phenotype analysis on large biobank cohorts.

This study identifies 22 genetic variant-phenotype associations linked to multiple primary cancers using whole-exome sequencing in two large multi-ancestry cohorts.

This study identifies 54 new genetic risk loci for cataract through a multiethnic GWAS meta-analysis and finds sex-specific effects and gene expression relevance in mouse models.

This study evaluates polygenic risk scores across 17 cancer types in two large cohorts, identifying cross-cancer associations and non-cancer phenotype links.

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

The paper conducts pan-cancer GWAS in two cohorts, identifying novel risk variants and shared genetic basis across 18 cancer types.

The paper identifies putative cis-regulatory elements associated with blood pressure traits using open chromatin and gene expression data, and identifies several candidate genes for further functional testing.