Hari Somineni

Pitfalls in performing genome-wide association studies on ratio traits

This paper shows that genome-wide association studies on ratio traits can be misleading, as associations may be driven by the denominator rather than the numerator, and proposes a method to correct for collider bias.

Causal considerations can determine the utility of machine learning assisted GWAS

This study shows that machine learning-derived phenotypes for GWAS can lead to false discoveries depending on their causal relationship with the target phenotype and environment.

EmbedGEM: A framework to evaluate the utility of embeddings for genetic discovery

EmbedGEM evaluates embeddings for genetic discovery by assessing heritability and disease relevance using polygenic risk scores and genome-wide association statistics.

An allelic series rare variant association test for candidate gene discovery

The paper introduces COAST, a rare variant association test for allelic series, which improves power over SKAT-O in detecting gene-trait associations in lipid and cell count traits using UK Biobank data.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

Methylation Quantitative Trait Loci are Largely Consistent across Disease States in Crohns disease

The paper identifies methylation quantitative trait loci (mQTLs) in blood and ileum samples from Crohn's disease patients and finds they are largely consistent across disease states and tissues.