Judy Pa

This paper uses Polygenic Risk Scores and Mendelian Randomization to evaluate the causal effect of mitochondrial DNA copy number on Alzheimer's and Parkinson's disease risk.

The paper investigates the association between mitochondrial genome abundance and Alzheimer's disease, finding lower abundance correlates with worse neuropathology and cognitive performance.

The paper develops a method to impute missing mitochondrial DNA variants using a large reference alignment, improving haplogroup assignment and enabling better integration of mtDNA data from different sources.

The paper investigates mitochondrial pathway polygenic risk scores and finds associations with increased Alzheimer's Disease risk in a cohort from the Alzheimer's Disease Neuroimaging Initiative.

The paper investigates how mitochondrial DNA haplogroups and a polygenic risk score interact to influence dementia risk and age of onset.

BDQC identifies data outliers and anomalies in large-scale genomic pipelines without domain knowledge, improving data quality and enabling new insights.