Eimear E. Kenny

This paper identifies 116 risk loci for melanoma through GWAS, links susceptibility to immunity and Wnt signaling, and develops a PRS improving risk prediction.

This paper introduces PGSC, a polygenic score framework that incorporates locus-specific gene-context interactions, showing improved prediction across multiple traits and ancestries.

The paper explores patient and clinician perspectives on identifying and managing the underlying causes of severe hypercholesterolemia through genomic insights.

The paper uses admixture mapping in the All of Us Research Program to identify genetic ancestry associations with 22 traits, finding 71 novel loci where African ancestry explains phenotypic variation.

This paper introduces a framework to integrate social determinants of health into disease risk models using biobank survey data, showing improved prediction beyond genetic factors.

The paper develops a standardized case-level categorization metric for genomic results across the CSER2 consortium to assess diagnostic yield and identify resolvable factors in inconclusive cases.

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

SPC improves population structure adjustment in genomic analysis by capturing fine-scale patterns better than principal components, reducing p-value inflation and improving rare variant associations.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

This paper introduces a coalescent-based framework to unify population structure and relatedness analysis, showing that full GRMs can replace PCs for modeling genetic covariance.

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

This study calibrates polygenic risk scores (PRS) for African American adults based on genetic ancestry, improving risk stratification and effect estimation for type 2 diabetes and height.

The paper investigates why carriers of pathogenic variants in monogenic metabolic conditions show variable disease severity, finding support for variant effect sizes, polygenic backgrounds, and epistasis.

The paper develops a pipeline for integrated breast cancer risk assessment using polygenic risk scores and other factors in the eMERGE study, showing high concordance between API and UI results.

The paper develops gene expression prediction models for asthma-related tissues in African-ancestry populations and identifies 17 candidate causal asthma genes using transcriptome-wide association study.

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

This study compares phenome-wide admixture mapping and genome-wide association in a diverse biobank, finding 77 significant AM signals, 48 missed by GWAS.

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

MUSSEL improves polygenic risk prediction across populations by integrating GWAS summary statistics and using Bayesian hierarchical modeling with ensemble learning.

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

This paper introduces HAMSTA, a method to estimate heritability from admixture mapping summary statistics while adjusting for ancestral stratification bias, and applies it to African American datasets.

The paper identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper evaluates the impact of GUIA, a digital genetic counseling tool, on understanding of genetic test results in diverse families, finding improved understanding in the intervention group.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

The paper introduces Minigraph-Cactus, a pangenome pipeline that constructs pangenome graphs directly from whole-genome alignments, demonstrating improved performance in mapping and variant calling across human and Drosophila data.

The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.