Karl Keat

This paper uses GWAS and mediation analysis on CT-derived phenotypes to show genetic variants influence disease through intermediate imaging traits.

The PMBB Geno-Pheno Toolkit provides modular pipelines for cross-biobank association analyses, supporting GWAS, ExWAS, and PheWAS with containerized workflows.

The paper reports NAT2 star allele frequencies across three biobanks, identifying common alleles and population-specific differences in metabolizer phenotypes.

The paper shows that suppressing both COX-1 and COX-2 does not cause intestinal injury in mice unless combined with specific NSAIDs, and that gut microbiome changes amplify NSAID-induced enteropathy.

This study evaluates the reliability of coronary artery disease polygenic risk scores across diverse populations, finding poor individual agreement despite equivalent population-level performance.

Meta-SAIGE improves rare variant meta-analysis by controlling type I error and enhancing computational efficiency, identifying 237 associations across 83 disease phenotypes.

This paper optimizes the SAIGE algorithm using GPUs to accelerate GWAS on large datasets, achieving 20x speedup on the Million Veteran Program data.

The paper evaluates the frequency and impact of pharmacogenetic alleles in a diverse biobank population, finding high prevalence of actionable alleles and disparities by ancestry.

BuddySuite provides command-line tools for handling sequence, alignment, and phylogenetic tree files, supporting multiple formats and offering over 100 tools for data manipulation.