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Talk Title:

Using T2T-level comparative genomics to study repeat biology

Abstract:

Mobile elements and highly repetitive regions are potent sources of lineage-specific genomic innovation and are integral to the structure and function of eukaryotic cells. Recent efforts employing long-read based genome assembly, functional and repeat analyses across multiple marsupial and primate lineages have afforded the opportunity to distinguish the key elements participant in centromere evolution and chromosome rearrangement from those that establish centromere stability. Moreover, as part of the Telomere-to-Telomere (T2T) consortium, we have completed a comprehensive repeat annotation for the first complete human reference genome. Utilizing PRO-seq to detect nascent transcription and nanopore sequencing to delineate CpG methylation profiles, we defined the structure of transcriptionally active retroelements in humans. Using a comparative cytogenomics approach, these studies provide insight into the diversity, distribution and evolution of repetitive regions that shape chromosome structure and evolution in species groups experiencing rapid karyotypic change.