Kathryn Step

CNV-Finder uses deep learning to detect copy number variations from array data, improving accuracy and reducing manual workload for downstream analyses.

This study performs genetic screening of South African Parkinson's disease patients, identifying rare variants and CNVs in known PD genes, highlighting their contribution to disease in an underrepresented population.

This study conducts the first XWAS in an African cohort, identifying X chromosome variants associated with Parkinson's disease susceptibility in males and females.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

The paper evaluates polygenic risk scores for Parkinson's disease in a South African cohort, finding modest predictive performance and no ancestry-specific risk variants.

This study identifies Parkinson's disease susceptibility variants in a South African cohort using GWAS and local ancestry analysis, highlighting ancestry-specific genetic risk factors.

The paper identifies novel runs of homozygosity linked to Parkinson's disease risk and age at onset across diverse populations using genome-wide data.