John S. Witte

This study finds that allele frequencies at recessive disease genes are mainly shaped by pleiotropic effects in heterozygotes, not purely recessive selection.

This paper evaluates polygenic risk scores (PRSs) in diverse populations using absolute risk models, finding that PRSs can provide greater utility in risk stratification for certain diseases in non-European populations.

This paper develops a germline polygenic score (PRSagg) to predict prostate cancer aggressiveness and validates it across multiple datasets.

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 eight novel lung cancer susceptibility loci and shows that germline variants related to smoking and DNA repair influence somatic mutation burden in lung tumors.

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 genetic variants influencing blood cell traits linked to increased susceptibility to childhood acute lymphoblastic leukemia.

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

The paper proposes a two-step method to detect gene-environment interactions across multiple phenotypes, showing improved power in simulations and identifying significant signals in lipid data from UK Biobank.

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

This study shows that including variants from African ancestry populations improves the accuracy and fairness of polygenic risk scores across diverse populations.

This study integrates polygenic risk scores with modifiable risk factors and family history to improve cancer risk prediction across 16 cancers using UK Biobank data.

This study identifies genetic loci and amino acid residues associated with immune response to viral infections using serological data from the UK Biobank.

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

The paper identifies genetic links between impaired pulmonary function and increased lung cancer risk, showing causal relationships through Mendelian randomization and highlighting immune-related pathways.

The paper compares two heritability estimation methods and finds low frequency variants contribute significantly to heritability of complex traits.

This paper introduces a reference-free method for generating polygenic risk scores (PRS) that avoids over-fitting and computational inefficiencies, and demonstrates applications in pleiotropy detection and mixed-model association testing.

This paper introduces CPBayes, a Bayesian method for detecting pleiotropic genetic associations across multiple traits, showing improved accuracy over existing methods in both simulations and real data.

The paper shows rare variant association tests have lower power than expected, suggesting poor performance rather than minimal contribution of rare variants to heritability.