Harry Bowles

The paper evaluates bioinformatics tools for detecting human endogenous retroviral insertions in short-read genome sequencing data, finding performance variability across datasets and recommending a consensus approach.

This paper introduces a method to estimate penetrance for autosomal dominant traits using population data and family history, validated through simulations and case studies.

RetroSnake detects HERVs in NGS data using an end-to-end pipeline validated by wet-lab experiments, producing annotated insertions in an interactive HTML file.