Adam Phillippy
Adam Phillippy

Nov 29, 2023, 4:45 PM CET

Watch on YouTube

What’s new in the human (pan)genome?

Community
Keynote

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.

Watch on YouTube
Adam Phillippy

Adam Phillippy

Senior Investigator and head of the Genome Informatics Section at the U.S. National Human Genome Research Institute

Keynote
Speaker