Lannawill Caruth

A Computational and Statistical Framework Leveraging AI-Derived CT Phenotypes for Causal Mediation Effects Between Genetic Variants and Disease

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

PMBB Geno-Pheno Toolkit: A suite of scalable, reproducible pipelines for cross-biobank association analyses

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

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs

DRIVE-KG integrates multi-omics data into a knowledge graph to discover SNP-phenotype associations and predict endometriosis status, uncovering new variant-phenotype links and improving classification performance.

Endophenotype-Informed Polygenic Risk Stratification for Primary Open-Angle Glaucoma in individuals of African Ancestry

This paper develops endophenotype-informed polygenic risk scores for POAG in African ancestry individuals, showing improved clinical interpretability and risk stratification compared to aggregate scores.

Disease-associated Kv1.3 variants are energy compromised with impaired nascent chain folding.

This study investigates how disease-associated Kv1.3 variants affect protein folding and stability, finding that R114G variant shows reduced folding probability and structural instability.

Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women's Health Outcomes

The paper examines how genetic and environmental factors, including social determinants of health, influence women's health outcomes by analyzing polygenic risk scores and environmental exposures in the All of Us cohort.