Guillaume Bourque

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Guillaume Bourque

Professor, Department of Human Genetics

Email: guil.bourque@mcgill.ca
Phone: (514) 398-8602
Fax: (514) 398-1790

740 Dr Penfield Ave, Room 6103
Montréal, Québec, Canada, H3A 1A4


Dr. Bourque joined McGill University in 2010 and is a Professor in the Department of Human Genetics and the Director of Bioinformatics at the McGill Genome Center. During his PhD, he worked on genome rearrangements in evolution with Pavel Pevzner at the University of Southern California. From 2004 to 2010, he worked at the Genome Institute of Singapore, where he was a Senior Group Leader and the Associate Director of Computational & Mathematical Biology. Dr. Bourque leads the Canadian Center for Computational Genomics (C3G), a Genome Canada bioinformatics platform, and the McGill initiative in Computational Medicine (MiCM). He is also the head of the Epigenomics Mapping Center at McGill, a project that oversees data generation and processing as part of the Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC), which is associated with the International Human Epigenome Consortium (IHEC). He is also the chair of the Integrative Analysis working group of IHEC.

Dr. Bourque is a member of the Advisory Board of CIHR’s Institute of Genetics and is on the External Consultant Panel of the US-funded Encyclopedia of DNA Elements (ENCODE) project. He is also on the Steering Committee of the Global Alliance for Genomics and Health (GA4GH) since two of his projects, CanDIG and EpiShare, have been selected as Driver Projects by the organization. Dr. Bourque is also on the Research Advisory Council of Compute Canada, the national platform for high-performance computing, and of CANARIE, responsible for Canada’s ultra-fast network backbone. In 2019, his leadership in Digital Research Infrastructure was recognized and he was named as one of the 4 Directors of the Applicant Board of the new organization that will coordinate these efforts for Canada. This new organization is funded by the Ministry of Innovation, Science and Economic Development Canada (ISED), with a budget of 375 M$ over the next 5 years, to deploy and coordinate a national infrastructure (covering high-performance computing, software and data management) that will support all areas of research.

Research Interests

The goal of the Bourque lab is to understand mammalian genomes using comparative genomic and epigenomic analyses. Areas of interest include: the evolution of regulatory sequences, the role of transposable elements in gene regulation and the impact of genome rearrangements in evolution and cancer. Work in the lab involves examining the billions of DNA base pairs and interpreting how variation impacts basic biology and disease. One objective is to develop computational methods and resources for the functional annotation of genomes with a special emphasis on sequencing-based assays (e.g. ChIP-seq, RNA-Seq, exome- and whole-genome sequencing, single-cell analysis). Dr. Bourque is also in an ideal position to contribute and drive large health initiatives that have a strong genomic and bioinformatics component. His lab develops advanced tools and scalable computational infrastructure to enable large-scale applied research projects.

Recent Publications

  • Gill, EE, Jia, B, Murall, CL, Poujol, R, Anwar, MZ, John, NS et al.. The Canadian VirusSeq Data Portal & Duotang: open resources for SARS-CoV-2 viral sequences and genomic epidemiology. ArXiv. 2024; :. . PubMed PMID:38764594 PubMed Central PMC11100916.
  • Kuzmin, E, Baker, TM, Lesluyes, T, Monlong, J, Abe, KT, Coelho, PP et al.. Evolution of chromosome-arm aberrations in breast cancer through genetic network rewiring. Cell Rep. 2024;43 (4):113988. doi: 10.1016/j.celrep.2024.113988. PubMed PMID:38517886 PubMed Central PMC11063629.
  • Lougheed, DR, Liu, H, Aracena, KA, Grégoire, R, Pacis, A, Pastinen, T et al.. EpiVar Browser: advanced exploration of epigenomics data under controlled access. Bioinformatics. 2024;40 (3):. doi: 10.1093/bioinformatics/btae136. PubMed PMID:38449289 PubMed Central PMC10963074.
  • Aracena, KA, Lin, YL, Luo, K, Pacis, A, Gona, S, Mu, Z et al.. Epigenetic variation impacts individual differences in the transcriptional response to influenza infection. Nat Genet. 2024;56 (3):408-419. doi: 10.1038/s41588-024-01668-z. PubMed PMID:38424460 .
  • Gutierrez-Camino, A, Caron, M, Richer, C, Fuchs, C, Illarregi, U, Poncelet, L et al.. CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in TCF3::PBX1 ALL. Int J Mol Sci. 2024;25 (3):. doi: 10.3390/ijms25031477. PubMed PMID:38338754 PubMed Central PMC10855129.
  • Bhérer, C, Eveleigh, R, Trajanoska, K, St-Cyr, J, Paccard, A, Nadukkalam Ravindran, P et al.. A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome. NPJ Genom Med. 2024;9 (1):8. doi: 10.1038/s41525-024-00390-3. PubMed PMID:38326393 PubMed Central PMC10850497.
  • Groza, C, Schwendinger-Schreck, C, Cheung, WA, Farrow, EG, Thiffault, I, Lake, J et al.. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024;15 (1):657. doi: 10.1038/s41467-024-44980-2. PubMed PMID:38253606 PubMed Central PMC10803329.
  • COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023;621 (7977):E7-E26. doi: 10.1038/s41586-023-06355-3. PubMed PMID:37674002 PubMed Central PMC10482689.
  • Lee, H, Greer, SU, Pavlichin, DS, Zhou, B, Urban, AE, Weissman, T et al.. Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome. Cell Rep Methods. 2023;3 (8):100543. doi: 10.1016/j.crmeth.2023.100543. PubMed PMID:37671027 PubMed Central PMC10475782.
  • N'Guessan, A, Kailasam, S, Mostefai, F, Poujol, R, Grenier, JC, Ismailova, N et al.. Selection for immune evasion in SARS-CoV-2 revealed by high-resolution epitope mapping and sequence analysis. iScience. 2023;26 (8):107394. doi: 10.1016/j.isci.2023.107394. PubMed PMID:37599818 PubMed Central PMC10433132.
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