Cillian Nolan

This paper uses 6-base sequencing to analyze DNA modifications in cerebrospinal fluid cell-free DNA, providing insights into neurodegenerative biology for liquid biopsy applications.

The paper creates a long-read benchmark for genetic variants using a large pedigree, improving variant calling performance and introducing new truth sets for tandem repeats and structural variants.

The paper uses a four-generation family to systematically assess de novo mutations and recombination, finding high mutation rates and paternal bias, along with a detailed recombination map.

This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.