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

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 16 research grants (14 CIHR, 2 NSERC), most recently in 2025.
Supervisor on 1 trainee award (1 CIHR), 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

106

Collaborators

Grants

Publications by year

Counts cover the publications linked to this profile. Citations and the h-index appear when the source records them.

Profiles and links

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Signals and details

Research

Genetics genomics bioinformatics genome graphs epigenomics functional genomics Epigenetics transposable elements

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
Canada at the Core: Powering the GA4GH Ecosystem for Global Genomic Data Sharing
CIHR · 2025 · Principal investigator
$5,000,000
The Canadian Bioinformatics, Computational Biology and Health Data Sciences Training and Community Platform (BCBHDS Platform)
CIHR · 2024 · Principal investigator
$5,550,000

All 39 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

Canada at the Core: Powering the GA4GH Ecosystem for Global Genomic Data Sharing

Principal investigatorCIHR2025GA4GH: National Genomics Data Sharing Initiative

Principal investigators: Goodhand, Peter C; Bourque, Guillaume; Joly, Yann; Zawati, Ma'n Hilmi M.

Keywords: Accessibility; Clinical Genomics; Data Sharing; Federation; Findability; Genomics; Healthcare; Interoperability; Reusability; Standards

$5,000,000

The Canadian Bioinformatics, Computational Biology and Health Data Sciences Training and Community Platform (BCBHDS Platform)

Principal investigatorCIHR2024Training Grant: HRTP - Bioinformatics, Computational Biology, Health Data Scien.

Principal investigators: Brazas, Michelle D; Bourque, Guillaume; Hsiao, William; Hughes, Nia; Hussin, Julie; Kong, Jude D; Pai, Shraddha; Sukhai, Mahadeo; Wasserman, Wyeth W; Wishart, David S

Keywords: Bioinformatics, Computational Biology & Health Data Science; Championing Diverse Talent And Careers; Competency Based Learning Pathways; Graduates, Post-Graduates And Early Career Researchers; Idea- And Career-Focused Matched Mentorship Guidance; Interdisciplinary, Intersectoral Capacity Building; Local Training Opportunities And Awards; National Community Building Activities; On-Demand, Virtual And In-Person Training; Professional Development Training

$5,550,000

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

Planning for Bioinformatics Capacity Building

Co-investigatorCIHR2023Planning and Dissemination Grant - Institute Community Support

Principal investigators: Brazas, Michelle D

Keywords: Bioinformatics Training Events; Canadian Bioinformatics Society; Capacity Building Activities In Bioinformatics; Community Building Activities; Planning Meeting; Skilled Workforce

$14,980

International Human Epigenome Consortium (IHEC) 2023 Satellite Meeting

Co-investigatorCIHR2023Planning and Dissemination Grant - Institute Community Support

Principal investigators: Hirst, Martin

Keywords: Dna; Epigenetics; Health; Knowledge Translation

$15,000

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

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

Teruko Taketo

Nada Jabado

Elin Grundberg

Morag Park

Vincent Mooser

Elena Kuzmin

Jacquetta Trasler

Michael Brudno

Jacek Majewski

Yasser Riazalhosseini

Arkady Khoutorsky

Guillaume Butler-Laporte

David Langlais

Serge McGraw

Marie-Claude Vohl

Erwin Schurr

Mathieu Blanchette

Jianguo Xia

Eric Bouffet

Ioannis Ragoussis

Bratislav Misic

Caroline Colijn

Yojiro Yamanaka

Ute Bartels

Natalie Prystajecky

Jean Michaud

Lincoln Stein

Martin Hirst

Uri Tabori

Nahum Sonenberg

Mathieu Lupien

ATILLA Omeroglu

Philippe Gros

Robert Hammond

Patrick Cossette