ERC Consolidator Grant · 2022
Mutational processes and impact of structural variants in somatic cells
Mutational processes that generate structural variants (SV) in human and other genomes are understudied and merit attention, and similarly so for the functional impact of the SVs on gene function and regulation. SVs may explain some of the missing heritability in population studies, they may provide candidate pathogenic variants in pedigree studies of hereditary diseases, as well as constitute yet-undiscovered driver events that were anticipated from cancer genomics. Reasons why the SV mutational processes and SV functional impact are understudied are both of a technical and a conceptual nature; both aspects will be addressed in the STRUCTOMATIC project. We will study structural variation…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.