School of Biomedical Sciences is pleased to invite you to join the following seminar:

Date: 19 April 2024 (Friday)
Time: 4:00 pm – 5:00 pm
Venue: Lecture Theatre 1, G/F, William M.W. Mong Block, 21 Sassoon Road

Speaker: Professor Guillaume Bourque, Professor in the Department of Human Genetics at McGill University, Canada Research Chair in Computational Genomics and Medicine and Director of Bioinformatics at the McGill Genome Center
Talk Title: Human genome 2.0 : why a pangenome graph is better for genetic and epigenetic analyses

Biography

Prof. Guillaume Bourque is a Professor in the Department of Human Genetics at McGill University, a Canada Research Chair in Computational Genomics and Medicine and the Director of Bioinformatics at the McGill Genome Center. He is also a Principal Investigator at the Institute for the Advanced Study of Human Biology (ASHBi) of Kyoto University. Prof. Bourque is on the Scientific Steering Committee of the International Human Epigenome Consortium (IHEC) and on the Steering Committee of the Global Alliance for Genomics and Health (GA4GH). His research interests are in comparative and functional genomics with a special emphasis on applications of next-generation sequencing technologies. His papers have been cited 37,487 times and his h-index is 72 (source Google scholar).

Abstract
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 graph-based 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 the pangenome reference. In particular, I will show how this new reference can be used to extract missing signal when looking for genetic variants in a rare disease cohort called Genomic Answers for Kids. Finally, I will also describe the results of a new study using a genome-graph looking at epigenetic changes before and after influenza infection in monocyte-derived macrophages extracted from more than 30 individuals of different ancestry. 

ALL ARE WELCOME

Should you have any enquiries, please feel free to contact Miss Crystal Chan at 3917 6830.