Gatekeeping Genetics: Towards a More Diverse, Just, and Inclusive Research Enterprise

Since the initial release of the human genome sequence 20 years ago, human chromosomes have remained unfinished due to large regions of highly identical repeats clustered within centromeres, regions of segmental duplication, and the acrocentric short arms of chromosomes. However, recent advances in long-read sequencing technologies and associated algorithms have now made it possible to systematically assemble these regions from native DNA for the first time. 

In this session, we will present the first complete sequence of a human genome and provide an in-depth look at the newly resolved regions, their variation across individuals, and the resulting impact on human health, disease, and evolution. Our first speaker is a co-lead of the Telomere-to-Telomere (T2T) Consortium (https://sites.google.com/ucsc.edu/t2tworkinggroup), and he will introduce the session by unveiling the complete human genome and explaining the efforts to sequence, assemble, and validate the genome assembly. Our second speaker will present the genetic and epigenetic maps of all human centromeric regions and discuss their evolution across the hominid phylogeny over the last 25 million years. Our third speaker will focus on the segmental duplications found within the genome and discuss their transcriptional and epigenetic status. Finally, our fourth speaker will present the human methylome, with a particular focus on the epigenetic profile of newly resolved regions. At the end of the session, we will host a panel discussion to allow for a Q&A between the audience and each of our four speakers.

Recorded session from the 2021 virtual meeting.