Róisín M. Boggan

Benchmarking of Human ReadRemoval Strategies for Viral andMicrobial Metagenomics

The paper benchmarks human read removal methods in metagenomics, finding that high-sensitivity Bowtie2 with T2T-CHM13 reference improves removal while preserving microbial data.

Large-scale blood mitochondrial genome-wide study provides novel insights into mitochondrial disease-related traits

This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.

Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.