Lucas, J. (BMEB) – Enabling Population-Scale Analysis of Human Centromere Diversity

Centromeric DNA is critical for accurate chromosome segregation and genome stability, but due to its repetitive nature, it was only recently fully included in a human reference. Rapid evolution and sequence diversity in these regions limit the utility of one reference sequence, however. Integrating centromeric and pericentromeric satellite DNA – which together constitute over 5% of the human genome – into genetic research requires access to diverse sequences and the variation between them. The HPRC’s Release 2 dataset, together with recent advancements in long-read assembly algorithms and new tools for sequence alignment and annotation, now make characterization of centromeric variation possible. In this proposal, I outline my work as part of the Human Pangenome Reference Consortium (HPRC) to create a diverse set of reference assemblies that accurately represent centromeric variation (aim 1), use novel tooling to characterize variation in centromeric regions (aim 2), and define the mutational processes that drive centromere evolution (aim 3). Completion of these aims will create a resource to enable the analysis and interpretation of centromeric variation data, bringing these historically inaccessible regions into mainstream studies of human genetics, evolution, and disease.

Event Host: Julian Lucas, Ph.D. Student, Biomolecular Engineering & Bioinformatics

Advisor: Karen Miga

Zoom: https://ucsc.zoom.us/j/94129246296?pwd=QAs2hW8QZRNgpfaGJXvmaVfo52tIh7.1

Passcode: 669318