Faculty profile

Guillaume Bourque

ResearcherHuman GeneticsMcGill University

This profile is built from public research funding records (CIHR, NSERC and SSHRC) and PubMed. We have not imported them from a McGill University directory, so their courses may be missing. Find their university profile.

Guillaume Bourque

Researcher

Human Genetics

Health Sciences

McGill University

Montreal, Quebec, Canada

Supervision signals

Has led research grants, which requires an independent research appointment. Ask their department whether they supervise graduate students.
53 publications in the last five years, latest in 2026.
Senior (last) author on 8 recent papers, a sign of leading a research group.
Principal investigator on 11 research grants (9 CIHR, 2 NSERC), most recently in 2024.
Supervised 1 trainee who won CIHR awards, most recently in 2024.

These signals come from public records, including CIHR, NSERC and SSHRC funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

143

Publications

1,237

Citations

h-index

116

Collaborators

Grants

Publications by year

Counts cover the works listed on the university profile; citation counts come from Dimensions.

Profiles and links

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Signals and details

Research

Genetics Genomics Epigenetics Clinical Trials Data Diversity Data Standards Database Federated Network

Latest papers

EpiATLAS - a reference for human epigenomic research.
bioRxiv : the preprint server for biology · 2026
Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.
Genome biology · 2026 · senior author
Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.
Genome research · 2026 · senior author

All 143 publications

Latest funding

Deriving insights for research data sharing from a large-scale data sharing initiative in Canada
CIHR · 2026 · Co-investigator
$100,000
Epigenomics analysis methods using genome graphs
NSERC · 2024 · Principal investigator
$55,000
Exploring Telomere Length Variability in Health and Disease Using Long-Read Sequencing
CIHR · 2024 · Supervisor
$120,000

All 22 grants and awards

143 publications.

EpiATLAS - a reference for human epigenomic research.

International Human Epigenome Consortium, Manz Q, Bilenky M, Hecker D, Aggarwal N, Arcila-Galvis JE, Ashrafiyan S, Baumgarten N, Ardakani FB, Branco Lins PR, Breeze CE, Brownlee D, Bujold D, Chapman AR, Chow SH, Dincer TU, Dupras C, Frosi G, Fu J, Gérard D, Hauduc A, Hyacinthe J, Jaroszewicz A, Li R, Mangan RJ, Mikulasova A, Moghul I, Needhamsen M, Palmour N, Pacheco MP, Quon J, Raby J, Reynolds A, Rumpf L, Salhab A, Shi CH, Sinkkonen L, Tanigawa Y, Tanner RM, Vu H, White F, Aw JTM, Badii S, Bowlby R, Boyle M, Brown C, Chand D, Calingo M, Cao Q, Carles A, Caron M, Carreira M, Cheng ASL, Cheng CCY, Cheng D, Cheng Y, Cheung MF, Choe G, Chuah E, Dali R, Deng A, Gakkhar S, Gut M, He A, Heath SC, Ho V, Intan AG, Ito CY, Jiang Q, Kluiver JL, Lee J, Lee S, Leung Z, Li I, Lorzadeh A, McKerricher D, Mishra N, Mungall K, Nagai LAE, Ngubo M, Palmquist D, Pang J, Park V, Plettner P, Puri A, Redensek A, Sharafian Z, Simon MM, Steif J, Su E, Tam SKM, Tam SST, Van den Berg A, Wong R, Wong T, Wu JKH, Zhu A, Kwan T, Moksa M, Aherne ST, Aparicio S, Arima T, Chung HR, Costello JF, Eaves CJ, Fisher SJ, Gut IG, Harrison PW, Horsthemke B, Ilsley GR, Jagodic M, Karsan A, Lavoie PM, Leung D, Libbrecht MW, Manke T, Marra MA, Meuleman W, Müller F, Nakato R, Okae H, Rico D, Rosenstiel P, Sasaki H, Sauter T, Schreiber S, Scott DW, Stanford WL, Steidl C, Stunnenberg HG, Suyama M, Tran F, Ushijima T, Weng AP, Wiseman SM, Wu AR, Yip KY, Yip S, Beck S, Bourque G, Ernst J, Jacques PÉ, Joly Y, Kellis M, List M, Perkins TJ, Schulz MH, Walter J, Hirst M

bioRxiv : the preprint server for biology2026

DOI: 10.64898/2026.06.22.729579 PMID: 42395464

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.

Eveleigh RJM, Reiling SJ, Galvez JH, Bourgey M, Ragoussis J, Bourque G

Genome biology2026Senior author

DOI: 10.1186/s13059-026-04048-4 PMID: 41952156

Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.

Lougheed DR, Pastinen T, Bourque G

Genome research2026Senior author

DOI: 10.1101/gr.280766.125 PMID: 41539721

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

Galvez JH, Mastromatteo S, O'Neill K, Eveleigh R, Djambazian H, Thiruvahindrapuram B, Chuah E, Chen SH, Hajianpour A, Wang Z, Paton TA, Desai S, Pullenayegum S, He L, Pandoh P, Zhao Y, Mungall K, Mungall AJ, Wintle RF, Bourque G, Scherer SW, Jones S, Lathrop M, McLaren M, Ragoussis J

Frontiers in genetics2026

DOI: 10.3389/fgene.2026.1863034 PMID: 42644200

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.

Lucas JK, Hebbar P, Liao WW, Macias-Velasco JF, Novak AM, Asri M, Balacco JR, Blair AP, Bolognini D, Ebler J, Gardner JMV, Geleta M, Groza C, Guarracino A, Heringer P, Hickey G, Koren S, Lu S, Marin MG, Markovic C, Mastoras M, Mayoud C, McNulty B, Menendez JM, Minkina A, Mohanty SK, Monlong J, Munson KM, Oshima KK, Porubsky D, Ranallo-Benavidez TR, Raveane A, Seligmann WE, Shemirani R, Suzuki Y, Tierney JAS, Violich I, Yoo D, Zhuo X, Albracht D, Alexandrov IA, Allen J, Alsheikh-Ali AA, Andrews C, Antipov D, Antonacci-Fulton L, Arguello A, Ayllon M, Belter EA, Bender HD, Bonini KE, Buonaiuto S, Cao S, Mc Cartney AM, Chang PC, Chang X, Cheema J, Ciofi C, Clawson H, Cody S, Colonna V, Conwell HC, Diekhans M, Diroma MA, Dong Z, Dubocanin D, Eizenga JM, Eskandar P, Ferro E, Ford SM, Ford WW, Frankish A, Freeberg MA, Fu Q, Gao S, Gao Y, Garcia GH, Garcia OA, Garza JE, Ghorbani M, Graves-Lindsay TA, Gu B, Haggerty L, Hansen NF, Hao Y, Hillaker TL, Hossain SN, Huang N, Hunt SE, Hunt T, Jafarzadeh N, Jain N, Jehangir M, Jiang J, Kim J, Koo B, Kremitzki M, Li D, Li R, Lin J, Liu T, Lorig-Roach R, Loucks H, Loveland JE, Lu J, Ma W, Marsico FL, Medico JA, Mokrab Y, Moosa S, Moreno-Ochando A, Morishita S, Mudge JM, Mwaniki N, Nassir N, Natali C, Negi S, Ni L, Okamoto F, Owa C, Paez S, Peano C, Pickett BD, Pignata L, Prodanov T, Radhakrishnan A, Raney BJ, Rechtsteiner A, Ren L, Ryabov F, Sacco S, Salehi F, Sehgal A, Shabani M, Shahatit S, Shivakumar VS, Sinha S, Smeds L, Solar SJ, Sollitto M, Soranzo N, Suner MM, Söylev A, Tomlinson C, Tricomi FF, Ungaro MT, Varki R, Walenz BP, Wang C, Wang LE, Wenger AM, Whelan CV, Xin Z, Xu Z, Zhang W, Zhou Y, Zunino G, Altemose N, Barthel FP, Boucher C, Bourque G, Carroll A, Cechova M, Chaisson MJP, Cheng H, Cook-Deegan R, Doerr D, Durbin R, Fiston-Lavier AS, Formenti G, Fullerton SM, Fulton RS, Garg S, Garrison NA, Green RE, Greider CW, Gymrek M, Haeussler M, Hashmi MA, Haussler D, Ioannidis AG, Langley CH, Langmead B, Lawson HA, Logsdon GA, Makova KD, Martin FJ, Mitchell MW, Ossorio PN, Pisanti N, Prins P, Rautiainen M, Rhie A, Schatz MC, Scheinfeldt LB, Shafin K, Sirén J, Stergachis AB, Tayoun AA, Uddin M, Villani F, Vollger MR, Ye K, Eichler EE, Garrison E, Hall IM, Jarvis ED, Kenny EE, Li H, LoTempio J, Marschall T, Miga KH, Phillippy AM, Wang T, Paten B

bioRxiv : the preprint server for biology2026

DOI: 10.64898/2026.07.21.739710 PMID: 42539208

Evolutionarily divergent transcriptomic programs in ovarian folliculogenesis across mice, monkeys and humans.

Nakakita B, Mizuta K, Katou Y, Tasaki H, Nakamura T, Yabuta Y, Iwatani C, Tsuchiya H, Kawamoto I, Tsukiyama T, Chen X, Bourque G, Otsuki J, Nakatsuka M, Horie A, Mandai M, Saitou M, Ohta H

Development (Cambridge, England)2026

DOI: 10.1242/dev.205241 PMID: 41503675

Simultaneous epigenomic profiling and regulatory activity measurement using e2MPRA.

Zhang Z, Georgakopoulos-Soares I, Bourque G, Ahituv N, Inoue F

Nature communications2026

DOI: 10.1038/s41467-026-68422-3 PMID: 41535307

The gene-regulatory evolution of the human skeleton.

Yan Y, Mishol N, Lange K, Zhang Z, Bodek G, Kigel A, Priel N, Egyes N, Ronen O, Nini I, Rotenstreich L, Philosoph A, Martinez S, Beltramone S, Tsujikawa R, Rozenblatt A, Wange LE, Torralvo M, Hirsh G, Elboim Y, Viukov S, Korenfeld I, Damal Kandadai M, Cluzeau O, Nissim-Rafinia M, Meshorer E, Hanna JH, Vereecke E, Marom A, Kuhlwilm M, Bourque G, Marques-Bonet T, Fishilevich S, Inoue F, Gokhman D

Nature2026

DOI: 10.1038/s41586-026-11053-x PMID: 42778609

Transposable elements impact the human regulatory landscape through cell type specific epigenomic associations.

Hyacinthe J, Bourque G

Nature communications2026Senior author

DOI: 10.1038/s41467-026-74920-1 PMID: 42386716

Transcriptome atlases of rat brain regions and their adaptation to diabetes resolution following gastrectomy in the Goto-Kakizaki rat.

Brial F, Le Lay A, Rouch C, Henrion E, Bourgey M, Bourque G, Lathrop M, Magnan C, Gauguier D

Molecular brain2025

DOI: 10.1186/s13041-025-01176-z PMID: 39920851

Deriving insights for research data sharing from a large-scale data sharing initiative in Canada

Co-investigatorCIHR2026Project Grant - PA: Pandemic Preparedness and Health Emergencies Research

Principal investigators: Buckeridge, David L; Abbasgholizadeh Rahimi, Samira

Keywords: Data Management Practices; Data Sharing; Meta-Research

$100,000

Epigenomics analysis methods using genome graphs

Principal investigatorNSERC2024Discovery Grants Program - Individual

Principal investigators: Bourque, Guillaume

Keywords: bioinformatics; genome graphs; genomics; epigenomics; transposable elements; quantitative approaches; algorithms; evolution; functional genomics

$55,000

Exploring Telomere Length Variability in Health and Disease Using Long-Read Sequencing

SupervisorCIHR2024Doctoral Research Award - PA - Bioinformatics and Computational Biology

Principal investigators: Zhou, Yuxin

Keywords: Bioinformatics; Family Trios; Genetic Stability; Human Genetics; Long-Read Sequencing; Primordial Germ Cells; Telomere; Telomere Length Inheritance; Telomeric Repeat Variants

$120,000

The Pan-Canadian Genome Library (PCGL)

Nominated PICIHR2023Team Grant: Pan-Canadian Human Genome Library

Principal investigators: Bourque, Guillaume; Boycott, Kym M; Scherer, Stephen W; Bhérer, Claude; Brazas, Michelle D; Brudno, Michael; Caron, Nadine R; Courtot, Mélanie; Ferretti, Vincent; Joly, Yann; Jones, Steven; Lerner-Ellis, Jordan P; Stedman, Ian; Stein, Lincoln; Wasserman, Wyeth W; Zawati, Ma'n Hilmi M.

Keywords: Clinical Trials; Data Diversity; Data Standards; Database; Federated Network; Genetic Variants; Genetics; Genomics; Human Genomes; Portals

$14,940,000

Long-read technologies and pangenome approaches to improve genetic studies of human diseases and traits

Nominated PICIHR2023Project Grant

Principal investigators: Bourque, Guillaume

Keywords: Bioinformatics; Disease; Genetics; Genome Graphs; Genome Reference; Mobile Element Polymorphisms; Pangenome; Short Tandem Repeats; Telomeres; Unmappable Reads

$1,078,650

Interactions between human papillomavirus infections, bacterial vaginosis, and genital microbiomes of sex partners

Co-investigatorCIHR2023O.G: STBBI Res.: Beyond HIV/AIDS/Hep. C- STBBI other than HIV/hep. C (general)

Principal investigators: Malagon, Talia C; Franco, Eduardo L

Keywords: Bacterial Vaginosis; Cohort Study; Human Papillomavirus; Penile Microbiome; Repeated Measurements; Sexual Partners; Sexual Transmission; Sexually Transmitted Infection; Vaginal Microbiome; Young Adults

$429,650

CIHR-AMED Dissemination at CEEHRC AGM

Nominated PICIHR2022Planning and Dissemination Grant - Institute Community Support

Principal investigators: Bourque, Guillaume; Hirst, Martin

Keywords: Epigenetics

$20,000

Viral diversity and immune escape variants in vulnerable individuals post-vaccination.

Co-investigatorCIHR2021Operating Grant: Emerging COVID-19 Research Gaps and Priorities - Variants

Principal investigators: Piccirillo, Ciriaco A

Keywords: Computational Biology; Hematological Malignancies; Immune Escape Variants; Immunosenescence; Mutations; Serology; T Cells; Vaccines; Viral Genomics; Viral Transmission

Identification of biological properties and molecular signatures to predict treatment response in patients with advanced HPV positive oropharyngeal cancer

Co-investigatorCIHR2021Project Grant

Principal investigators: Silva Wurzba, Sabrina Daniela; Sadeghi, Nader

Keywords: Neoadjuvant Chemotherapy; Oropharyngeal Cancer

$665,550

Canada Research Chairs - Tier 1

Nominated PICIHR2019Canada Research Chairs - CIHR Funded - Tier 1

Principal investigators: Bourque, Guillaume

Keywords: Crc

$1,400,000

From CIHR, NSERC and SSHRC funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998, including their latest published competition results.

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Guillaume Bourque

Research

Latest papers

Latest funding

EpiATLAS - a reference for human epigenomic research.

Benchmarking of sequencing technologies defines optimal strategies for genetic variants detection in a human genome.

Read-level genotyping of short tandem repeats using long reads and single-nucleotide variation with STRkit.

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.

Evolutionarily divergent transcriptomic programs in ovarian folliculogenesis across mice, monkeys and humans.

Simultaneous epigenomic profiling and regulatory activity measurement using e2MPRA.

The gene-regulatory evolution of the human skeleton.

Transposable elements impact the human regulatory landscape through cell type specific epigenomic associations.

Transcriptome atlases of rat brain regions and their adaptation to diabetes resolution following gastrectomy in the Goto-Kakizaki rat.

Epigenomics analysis methods using genome graphs

Frequent collaborators

Tomi Pastinen

Mark Lathrop

Yann Joly

Kevin Petrecca

Daniel Sinnett

Elin Grundberg

Morag Park

Teruko Taketo

Kevin Petrecca

Nada Jabado

Elena Kuzmin

Vincent Mooser

Jacquetta Trasler

Michael Brudno

Jacek Majewski

Yasser Riazalhosseini

Morag Park

Guillaume Butler-Laporte

David Langlais

Serge McGraw

Arkady Khoutorsky

Erwin Schurr

Marie-Claude Vohl

Mathieu Blanchette

Jean Michaud

Ioannis Ragoussis

Eric Bouffet

Bratislav Misic

Alain Moreau

Natalie Prystajecky

Ute Bartels

Caroline Colijn

Sarah Kimmins

Yojiro Yamanaka

Lincoln Stein

Martin Hirst

Uri Tabori

Nahum Sonenberg

Mathieu Lupien

ATILLA Omeroglu