Template switch mutations (TSMs) are a poorly known mutation mechanism in DNA replication that "copy-pastes" small blocks of existing DNA. In the right context, TSMs can cause duplication or inversions of genetic elements or the emergence of a hairpin structure that have sudden and dramatic effects on the functions of nearby genes. TSMs are typically seen as mutation clusters but specific cases may be completely missed. In medical studies, the omission of the special properties of TSMs can potentially lead to missing causal mutations behind genetic diseases. This PoC project will combine the existing research tools, originally developed to identify TSMs in various genome data, into a proper analysis program and apply that to medical genetic data. This is done in close collaboration with national and international partners.

2025

2026