Simon Easteal

This study profiles genomic structural variation in Indigenous Australians using whole genome long-read sequencing, revealing abundant and previously unannotated variants and unique STR diversity.

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.

PACIFIC detects SARS-CoV-2 and co-infecting RNA viruses in RNA-seq data with high precision and recall across multiple datasets.

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 analyzes mortality data to show significant variation in human ageing rates across populations.