Towards a Complete View of Genetic Variation
Towards a Complete View of Genetic Variation
Navn på bevillingshaver
Genís Garcia-Erill
Titel
Postdoctoral Fellow
Institution
Heinrich Heine University Düsseldorf
Beløb
DKK 2,812,512
År
2026
Bevillingstype
Internationalisation Fellowships
Hvad?
I will explore the “dark genome”: regions of DNA that are difficult to read with standard methods and still poorly understood. These regions contain complex variation, including structural changes and repeat-rich stretches of DNA. I will investigate how mutation and recombination generate this hidden variation, and how it in turn feeds back on these processes to shape diversity and evolution.
Hvorfor?
The parts of the genome we know least about may hold some of the biggest clues to how genomes change. Hidden within it are complex forms of variation with important biological and evolutionary consequences. Revealing them will fill a major gap in our understanding of heredity, diversity, and evolution across humans and other primates.
Hvordan?
PacBio HiFi sequencing produces long, highly accurate DNA reads, making it possible to detect hidden complex variation as well as new mutation and recombination events. Together with variation graph analysis, this will allow me to identify all three from the same data across humans and other primates.