New methodologies to assess genomic variation

This thesis explores the detection of structural variants, particularly inversions, and the characterization of centromeric regions in human and non-human primate genomes, leveraging recent advances in genomic technologies. Inversions, which suppress recombination, are key drivers of evolutionary change, while centromeric regions, critical for cell division, have remained difficult to analyze due to their repetitive nature. The first part of the work focuses on the 17p11.2 region, linked to neurodevelopmental disorders, using Strand-seq and molecular cytogenetics to reconstruct the evolutionary history of inversion events in humans and non-human primates. The thesis then applies Strand-seq to a gibbon genome, developing analytical pipelines for data alignment, quality control, and detection of genomic rearrangements. Finally, we developed CENdetectHOR, a novel tool for centromere profiling and detection of Higher-order repeats (HOR), integrating classical methods with modern sequencing technologies. This work provides new insights into structural variation and centromere biology, offering valuable tools for future genomic research.