Expanding Studies of Global Genomic Diversity with Complete, Telomere-to-Telomere (T2T) Assemblies

Event Details

Type

Friday Lecture Series

Speaker(s)

Karen Miga, Ph.D., associate director, UCSC Genomics Institute, assistant professor, biomolecular engineering department,, University of California, Santa Cruz

Speaker bio(s)

The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here they leverage innovations in technology, study design and global partnerships with the goal of constructing the highest-possible quality human pangenome reference. The Human Pangenome Reference Consortium’s goal is to improve data representation and streamline analyses to enable routine assembly of complete diploid genomes. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve gene–disease association studies across populations, expand the scope of genomics research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine.

In 2019, Dr. Miga co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Additionally, Dr. Miga is the Director of the Reference Production Center for the Human Pangenome Reference Consortium (HPRC). Central to Dr. Miga’s research program is the emphasis on satellite DNA biology and the use of long-read and new genome technologies to construct high-quality genetics and epigenetic maps of human peri/centromeric regions.

FLS lectures will take place in Caspary Auditorium and virtually via Zoom. We recommend virtual participants log out of VPN prior to logging in to Zoom. Please do not share the link or post on social media. This talk will be recorded for the RU community.

Open to

Tri-Institutional