Guest Speaker: Guillaume Bourque

DEPARTMENTAL SEMINAR SERIES

Guillaume Bourque, PhD McGill University

Hosts: Dr. Michael Wilson, Dr. Ran Kafri

Date: June 05, 2023 Time: 11:00 AM EST Location: MSB MS 2172

Human genome 2.0: why a pangenome graph is better for genetic and epigenetic analyses

Genomic analyses often start by mapping reads to a reference genome. But, in every individual, there are DNA variants and sequences that are unique to that individual and reads coming from those regions will often be ignored. Thankfully, progress in long-read technologies and assembly can now efficiently deliver telomere-to-telomere genomes. Applying such approaches to a diverse panel of individuals combined with the development of graphbased genomic tools, the Human Pangenome Reference Consortium has just released the first human pangenome reference graph. This new resource is meant to alleviate the limitations of relying on a single linear human genome as the first step of most genetic and epigenetic analyses. In this talk, I will summarize some of the benefits of using this new reference. In particular, I will show how the human pangenome graph can be used to extract missing signal from epigenetics data. For this part, I will be describing the results of a new study looking at epigenetic changes before and after influenza infection in monocyte-derived macrophages extracted from more than 30 individuals of different ancestry.