Search by alphabetical order

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Back

Tomi Pastinen, MD, PhD

Research Institute of the McGill University Health Centre

Regular Member
Medical Genetics and Genomics


McGill University Health Centre (MUHC)

Medical Scientist


McGill University

Associate Professor, Department of Human Genetics


Research Interest


My research focuses on human functional genomics applicable to complex disease trait studies. This is tackled through a number of different components in the lab, which include: genome-wide characterization of regulatory variation in human cells, large-scale epigenomics mapping as part of the International Human Epigenome Consortium, human disease trait-oriented population cell models, identification of causal and disease-associated non-coding variants, and functional genomics of childhood leukemia. My lab is based at the McGill University and Genome Quebec Innovation Centre, which allows us to leverage the high-throughput sequencing technology and bioinformatics infrastructure. We have taken a multi-faceted approach to advance methods in these areas ranging from collaborative efforts with Illumina on their BeadChip platforms for measuring allelic activity, with Roche on their SeqCap platform for the identification of novel, rare, non-coding variation in immune-disease, to developing algorithms for calling variation in fine mapping from next-generation sequencing data.

Research Foci


  • complex disease traits
  • population epigenomics and genomics
  • functional genomics
  • human regulatory variation
  • novel applications of next-generation sequencing technology
  • immune disease

Keywords


genomics, epigenomics, sequencing technology, immune disease, Genome Quebec Innovation Centre

Selected Publications


Click on Pubmed to see my current publications list

  • S. Busche, B. Ge, R. Vidal, J. F. Spinella, V. Saillour, C. Richer, J. Healy, S. H. Chen, A. Droit, D. Sinnett, T. Pastinen, Integration of high-resolution methylome and transcriptome analyses to dissect epigenomic changes in childhood acute lymphoblastic leukemia. Cancer research 73, 4323-4336 (2013)

  • C. A. D. Consortium, P. Deloukas, S. Kanoni, C. Willenborg, M. Farrall, T. L. Assimes, J. R. Thompson, E. Ingelsson, D. Saleheen, J. Erdmann, B. A. Goldstein, K. Stirrups, I. R. Konig, J. B. Cazier, A. Johansson, A. S. Hall, J. Y. Lee, C. J. Willer, J. C. Chambers, T. Esko, L. Folkersen, A. Goel, E. Grundberg, A. S. Havulinna, W. K. Ho, J. C. Hopewell, N. Eriksson, M. E. Kleber, K. Kristiansson, P. Lundmark, L. P. Lyytikainen, S. Rafelt, D. Shungin, R. J. Strawbridge, G. Thorleifsson, E. Tikkanen, N. Van Zuydam, B. F. Voight, L. L. Waite, W. Zhang, A. Ziegler, D. Absher, D. Altshuler, A. J. Balmforth, I. Barroso, P. S. Braund, C. Burgdorf, S. Claudi-Boehm, D. Cox, M. Dimitriou, R. Do, D. Consortium, C. Consortium, A. S. Doney, N. El Mokhtari, P. Eriksson, K. Fischer, P. Fontanillas, A. Franco-Cereceda, B. Gigante, L. Groop, S. Gustafsson, J. Hager, G. Hallmans, B. G. Han, S. E. Hunt, H. M. Kang, T. Illig, T. Kessler, J. W. Knowles, G. Kolovou, J. Kuusisto, C. Langenberg, C. Langford, K. Leander, M. L. Lokki, A. Lundmark, M. I. McCarthy, C. Meisinger, O. Melander, E. Mihailov, S. Maouche, A. D. Morris, M. Muller-Nurasyid, T. C. Mu, K. Nikus, J. F. Peden, N. W. Rayner, A. Rasheed, S. Rosinger, D. Rubin, M. P. Rumpf, A. Schafer, M. Sivananthan, C. Song, A. F. Stewart, S. T. Tan, G. Thorgeirsson, C. E. van der Schoot, P. J. Wagner, C. Wellcome Trust Case Control, G. A. Wells, P. S. Wild, T. P. Yang, P. Amouyel, D. Arveiler, H. Basart, M. Boehnke, E. Boerwinkle, P. Brambilla, F. Cambien, A. L. Cupples, U. de Faire, A. Dehghan, P. Diemert, S. E. Epstein, A. Evans, M. M. Ferrario, J. Ferrieres, D. Gauguier, A. S. Go, A. H. Goodall, V. Gudnason, S. L. Hazen, H. Holm, C. Iribarren, Y. Jang, M. Kahonen, F. Kee, H. S. Kim, N. Klopp, W. Koenig, W. Kratzer, K. Kuulasmaa, M. Laakso, R. Laaksonen, J. Y. Lee, L. Lind, W. H. Ouwehand, S. Parish, J. E. Park, N. L. Pedersen, A. Peters, T. Quertermous, D. J. Rader, V. Salomaa, E. Schadt, S. H. Shah, J. Sinisalo, K. Stark, K. Stefansson, D. A. Tregouet, J. Virtamo, L. Wallentin, N. Wareham, M. E. Zimmermann, M. S. Nieminen, C. Hengstenberg, M. S. Sandhu, T. Pastinen, A. C. Syvanen, G. K. Hovingh, G. Dedoussis, P. W. Franks, T. Lehtimaki, A. Metspalu, P. A. Zalloua, A. Siegbahn, S. Schreiber, S. Ripatti, S. S. Blankenberg, M. Perola, R. Clarke, B. O. Boehm, C. O'Donnell, M. P. Reilly, W. Marz, R. Collins, S. Kathiresan, A. Hamsten, J. S. Kooner, U. Thorsteinsdottir, J. Danesh, C. N. Palmer, R. Roberts, H. Watkins, H. Schunkert, N. J. Samani, Large-scale association analysis identifies new risk loci for coronary artery disease. Nature genetics 45, 25-33 (2013)

  • J. R. Wagner, B. Ge, D. Pokholok, K. L. Gunderson, T. Pastinen, M. Blanchette, Computational analysis of whole-genome differential allelic expression data in human. PLoS computational biology 6, e1000849 (2010)

  • E. Grundberg, V. Adoue, T. Kwan, B. Ge, Q. L. Duan, K. C. Lam, V. Koka, A. Kindmark, S. T. Weiss, K. Tantisira, H. Mallmin, B. A. Raby, O. Nilsson, T. Pastinen, Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS genetics 7, e1001279 (2011)

  • B. Ge, D. K. Pokholok, T. Kwan, E. Grundberg, L. Morcos, D. J. Verlaan, J. Le, V. Koka, K. C. Lam, V. Gagne, J. Dias, R. Hoberman, A. Montpetit, M. M. Joly, E. J. Harvey, D. Sinnett, P. Beaulieu, R. Hamon, A. Graziani, K. Dewar, E. Harmsen, J. Majewski, H. H. Goring, A. K. Naumova, M. Blanchette, K. L. Gunderson, T. Pastinen, Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nature genetics 41, 1216-1222 (2009)