CORDIS Project
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This project investigates somatic genetic mosaicism, particularly focusing on structural variants in human cells. By analyzing single cells, it aims to understand how these genetic variations contribute to age-related diseases such as cancer and type 2 diabetes.
Advances in DNA sequencing technology, enabling routine genetic variation studies, have uncovered that genomic structural variants (SVs; e.g. deletions and inversions) account for most varying bases in human genomes. SVs are also disproportionally associated with disease phenotypes when compared to single nucleotide variants by number.
Studies are increasingly implicating genetic polymorphisms with diseases – yet why some humans develop diseases while others do not, and why disease incidences of…
EUROPEAN MOLECULAR BIOLOGY LABORATORY
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