Caoimhe Morley

SniffCell assigns somatic variants to cell types using DNA methylation from bulk long-read sequencing, revealing cell-type-specific mutations in human tissues.

VACmap improves detection of complex genomic rearrangements like inversions and duplications, which are critical for understanding diseases such as cardiovascular disease and Parkinson's disease.

The paper compares single-cell whole genome amplification methods and reference genomes for detecting somatic copy number variants in human brain tissue.