What’s new in the human (pan)genome?
Adam Phillippy
In 2022, the Telomere-to-Telomere consortium finished the first truly complete sequence of a human genome. This new reference sequence adds over 200 Mbp of novel sequence including recent segmental duplications, satellite repeats, and the short arms of all five acrocentric chromosomes. I will provide an overview of what we have learned from these new regions of the genome and highlight ongoing studies that are generating many more reference genomes from a diverse collection of humans and non-human primates. These new references are unlocking the last uncovered regions of the genome to comparative, functional, and evolutionary studies for the first time, and revealing what we have been missing for the past 20 years.
Adam Phillippy
Senior Investigator and head of the Genome Informatics Section at the U.S. National Human Genome Research Institute