Courtney J. Smith

This study uses haplotype analysis to identify disease associations in the HLA region across 412,181 Finnish individuals, revealing pleiotropic patterns and 7,649 associations across 647 traits.

This paper compares how GWAS and rare variant burden tests prioritize genes for 209 traits in the UK Biobank, showing they focus on different genes due to distinct prioritization criteria.

The paper analyzes gene dosage response curves for human complex traits and shows that they exhibit biased direction of effect, developing a theoretical model to explain this phenomenon.

The paper identifies novel transcripts, eQTLs, and caQTLs in African populations and fine-maps GWAS signals for complex diseases.

The paper develops a probabilistic model to explain genetic architectures of complex traits using scaling laws, finding that traits share similar selection coefficients but differ in scaling parameters.

The paper performs metabolite GWAS on UK Biobank data to investigate pleiotropy and genetic correlation, finding pathway-relevant genes and contrasting variant effects.

The paper tests for genetic interactions affecting causal variant effect sizes in gene expression and LDL-C across European and African American populations, finding significant evidence in gene expression but not LDL-C.