The foundation for modern biomedical research was established early this century by the Human Genome Project (HGP). However, due to technical constraints at the time, approximately 8% of the genome, consisting of highly repetitive sequences, remained unassembled. A major breakthrough has recently been achieved by the Telomere-to-Telomere (T2T) Consortium, which successfully resolved and closed this sequencing gap. This effort yielded the first truly complete and gapless human reference genome sequence. This monumental advance offers a significantly deeper understanding of complex chromosomal structures and functional regions, particularly through the fine-scale resolution of these repetitive elements. These sequences are not merely structural components—forming heterochromatin in areas like the telomeres, subtelomeres, and centromeres—but they are also primary drivers of population genetic diversity and de novo variation. Crucially, they are known to be intricately involved in the mechanisms behind disease-related structural variations, such as microdeletions and microduplications. A complete reference sequence is indispensable for comparative genomics. For example, the speaker’s team used the T2T genomes to investigate the fusion site and subtelomeric architecture of the human chromosome 2 fusion , a key evolutionary event that distinguishes humans from chimpanzees. Their findings suggest that the specific structure of the subtelomeres may have played a role in mediating this fusion event.

Speaker

Prof. Yafei Mao

School of Life Sciences and Biotechnology, SJTU

Time

 2025.12.25 12:00-13:30