Giuliana Giannuzzi , Institute University of Milan, Italy
I will talk to you about our serendipitous finding of an alpha satellite insertion from chromosome 18 centromere into the long arm of chromosome 15, ~10 Mbp distal from the location of an ancestral centromere. Using Oxford Nanopore’s adaptive sampling, we obtained long-read sequence information across both insertion junctions, identified the donor locus in the centromere of chromosome 18, discovered the parental origin of the rearrangement, and determined methylation status. This case suggests a new structural variant type and expands our knowledge about the dynamics of alphoid DNA, conveying the possibility that alphoid arrays can relocate near vestigial centromeric sites.
Giuliana obtained a Ph.D. in Genetics and Molecular Evolution from the University of Bari, Italy. She spent one year as visiting student at the University of Washington, Seattle and did her postdoc at the University of Lausanne, Switzerland. She recently obtained a permanent position as researcher at the Italian National Research Council (CNR) and as Assistant Professor at the University of Milan, Italy. Her research interests focus on structural variants in human and non-human primate genomes and their involvement in evolution and disease.