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- Jacek Majewski, PhD
null Jacek Majewski, PhD
![](/documents/10803/219611/majewski_jacek.jpg/dd7d7be0-9468-4467-9774-93e502d420ec?t=1732202495749)
Professor, Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University
Keywords
Bioinformatics • genomics
Research Focus
My research focuses on applying genomics approaches to a wide range of problems in human genetics and biology. Most state of the art techniques revolve around massively parallel DNA sequencing that generate huge amounts of data. Computational analysis of this type of data and its translation into biologically meaningful results are one of the main bottlenecks in today's large scale biomedical science. Our group combines expertise at the intersection of computer science and biology, and specializes in making biological sense out of genomics data. Among practical applications, we have recently made extensive contributions to the fields of Mendelian disease and cancer.
Selected Publications
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to see my current publications list
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Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J. Genome-wide analysis of transcript isoform variation in humans. Nat Genet. 2008 Feb;40(2):225-31. doi: 10.1038/ng.2007.57. Epub 2008 Jan 13. PMID: 18193047.
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Schwartzentruber J, Korshunov A, Liu XY, Jones DT, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Ryzhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Pekrun A, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature. 2012 Jan 29;482(7384):226-31. doi: 10.1038/nature10833. Erratum in: Nature. 2012 Apr 5;484(7392):130. PMID: 22286061.
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Harutyunyan AS, Krug B, Chen H, Papillon-Cavanagh S, Zeinieh M, De Jay N, Deshmukh S, Chen CCL, Belle J, Mikael LG, Marchione DM, Li R, Nikbakht H, Hu B, Cagnone G, Cheung WA, Mohammadnia A, Bechet D, Faury D, McConechy MK, Pathania M, Jain SU, Ellezam B, Weil AG, Montpetit A, Salomoni P, Pastinen T, Lu C, Lewis PW, Garcia BA, Kleinman CL, Jabado N, Majewski J. H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis. Nat Commun. 2019 Mar 19;10(1):1262. doi: 10.1038/s41467-019-09140-x. PMID: 30890717.
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Chen H, Hu B, Horth C, Bareke E, Rosenbaum P, Kwon SY, Sirois J, Weinberg DN, Robison FM, Garcia BA, Lu C, Pastor WA, Majewski J. H3K36 dimethylation shapes the epigenetic interaction landscape by directing repressive chromatin modifications in embryonic stem cells. Genome Res. 2022 May;32(5):825-837. doi: 10.1101/gr.276383.121. Epub 2022 Apr 8. PMID: 35396277.
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Shipman GA, Padilla R, Horth C, Hu B, Bareke E, Vitorino FN, Gongora JM, Garcia BA, Lu C, Majewski J. Systematic perturbations of SETD2, NSD1, NSD2, NSD3, and ASH1L reveal their distinct contributions to H3K36 methylation. Genome Biol. 2024 Oct 10;25(1):263. doi: 10.1186/s13059-024-03415-3. PMID: 39390582.