Ky’Era V. Actkins

Sex differences in the genetic architecture of clinical quantitative traits in the electronic health record

The paper identifies sex-specific genetic loci for clinical traits using EHR data, finding that differential effect magnitudes, not opposing effects, dominate sex-specific genetic architecture.

GXwasR: A Toolkit for Investigating Sex-Differentiated Genetic Effects on Complex Traits

GXwasR provides tools for sex-aware genetic analysis in GWAS and XWAS, enabling sex-differentiated effects and polygenic risk scores.

Age-related MICOS Complex Dysregulation Impairs Mitochondrial 3D Architecture and Metabolic Homeostasis in the Liver

This study investigates age-related changes in mitochondrial structure and function in the liver, identifying MICOS complex dysregulation as a contributor to metabolic and structural impairments.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

Sex Modifies the Effect of Genetic Risk Scores for Polycystic Ovary Syndrome on Metabolic Phenotypes

This study examines how sex influences the genetic risk of PCOS on metabolic traits using polygenic risk scores and EHR data.

Multi-ancestry GWAS of major depression aids locus discovery, fine-mapping, gene prioritisation, and causal inference

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

Lab-wide association scan of polygenic scores identifies biomarkers of complex disease

The paper introduces methods to clean and analyze clinical lab data linked to EHRs, finding polygenic scores associated with lipid levels and coronary artery disease biomarkers.

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.