Samuel Pattillo Smith

Across UK Biobank, All of Us and FinnGen, the inferred mean direction (sign bias) of rare minor-allele effects varies and is largely explained by each cohort's trait skewness.

The paper introduces SME, a fast method for detecting genome-wide epistasis in large biobank studies by focusing on functionally relevant genomic regions.

The paper evaluates tradeoffs between bias and variance in Gene-by-Environment interaction models for complex traits, showing that polygenic models can improve estimation and prediction.

This paper introduces PGSUS, a method to assess the influence of stratification and assortative mating effects on polygenic scores, revealing that direct genetic effects often contribute little to PGS variation.

This paper introduces i-LDSC, an extension of LDSC that accounts for genetic interactions, showing it recovers additional genetic variance in 25 traits from UK Biobank and BioBank Japan.

The paper identifies 1,000 gene-level associations and conserved pathway associations for 25 traits across seven ancestries using enrichment analyses on large-scale GWA data.

The paper identifies genotype-by-weather interactions in switchgrass by analyzing phenological timings across multiple environments and weather cues.

The paper identifies genetic modifiers of flight performance in Drosophila using the DGRP, finding additive and epistatic variants, whole genes, and network interactions, with implications for neurodevelopment and neurodegeneration.

The paper introduces WINGS, a method using hierarchical clustering to identify shared genetic architecture among multiple traits in the UK Biobank, finding 10 significant phenotype clusters.

The paper characterizes the prevalence and health consequences of uniparental disomy in four million individuals, identifying 675 cases and linking UPD of chromosome 22 to autism.