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

  • Chen, X, Pacis, A, Aracena, KA, Gona, S, Kwan, T, Groza, C et al.. Transposable elements are associated with the variable response to influenza infection. Cell Genom. 2023;3 (5):100292. doi: 10.1016/j.xgen.2023.100292. PubMed PMID:37228757 PubMed Central PMC10203045.
  • Groza, C, Chen, X, Pacis, A, Simon, MM, Pramatarova, A, Aracena, KA et al.. Genome graphs detect human polymorphisms in active epigenomic state during influenza infection. Cell Genom. 2023;3 (5):100294. doi: 10.1016/j.xgen.2023.100294. PubMed PMID:37228750 PubMed Central PMC10203048.
  • Rahimi, S, Shao, X, Chan, D, Martel, J, Bérard, A, Fraser, WD et al.. Capturing sex-specific and hypofertility-linked effects of assisted reproductive technologies on the cord blood DNA methylome. Clin Epigenetics. 2023;15 (1):82. doi: 10.1186/s13148-023-01497-7. PubMed PMID:37170172 PubMed Central PMC10176895.
  • Liao, WW, Asri, M, Ebler, J, Doerr, D, Haukness, M, Hickey, G et al.. A draft human pangenome reference. Nature. 2023;617 (7960):312-324. doi: 10.1038/s41586-023-05896-x. PubMed PMID:37165242 PubMed Central PMC10172123.
  • Guarracino, A, Buonaiuto, S, de Lima, LG, Potapova, T, Rhie, A, Koren, S et al.. Recombination between heterologous human acrocentric chromosomes. Nature. 2023;617 (7960):335-343. doi: 10.1038/s41586-023-05976-y. PubMed PMID:37165241 PubMed Central PMC10172130.
  • Vollger, MR, Dishuck, PC, Harvey, WT, DeWitt, WS, Guitart, X, Goldberg, ME et al.. Increased mutation and gene conversion within human segmental duplications. Nature. 2023;617 (7960):325-334. doi: 10.1038/s41586-023-05895-y. PubMed PMID:37165237 PubMed Central PMC10172114.
  • Hickey, G, Monlong, J, Ebler, J, Novak, AM, Eizenga, JM, Gao, Y et al.. Pangenome graph construction from genome alignments with Minigraph-Cactus. Nat Biotechnol. 2023; :. doi: 10.1038/s41587-023-01793-w. PubMed PMID:37165083 .
  • Porubsky, D, Vollger, MR, Harvey, WT, Rozanski, AN, Ebert, P, Hickey, G et al.. Gaps and complex structurally variant loci in phased genome assemblies. Genome Res. 2023;33 (4):496-510. doi: 10.1101/gr.277334.122. PubMed PMID:37164484 PubMed Central PMC10234299.
  • Duperron, MG, Knol, MJ, Le Grand, Q, Evans, TE, Mishra, A, Tsuchida, A et al.. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease. Nat Med. 2023;29 (4):950-962. doi: 10.1038/s41591-023-02268-w. PubMed PMID:37069360 PubMed Central PMC10115645.
  • Yakneen, S, Waszak, SM, PCAWG Technical Working Group, Gertz, M, Korbel, JO, PCAWG Consortium et al.. Author Correction: Butler enables rapid cloud-based analysis of thousands of human genomes. Nat Biotechnol. 2023;41 (4):577. doi: 10.1038/s41587-022-01554-1. PubMed PMID:36944844 PubMed Central PMC10110458.
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