null Jacek Majewski, PhD

Investigator, RI-MUHC

Child Health and Human Development Program

Professor, Department of Human Genetics, Faculty of Medicine and Health Sciences, McGill University



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

Click on Pubmed to see my current publications list

  • FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Shi Y, Majewski J. Bioinformatics. 2013 Jun 1;29(11):1461-2. doi: 10.1093/bioinformatics/btt151.

  • Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Schwartzentruber J,.. 38 others... Majewski J, Pfister SM, Jabado N. Nature. 2012 Jan 29;482(7384):226-31. doi: 10.1038/nature10833.

  • Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas. Fontebasso AM, Schwartzentruber J, Khuong-Quang DA, Liu XY, Sturm D, Korshunov A, Jones DT, Witt H, Kool M, Albrecht S, Fleming A, Hadjadj D, Busche S, Lepage P, Montpetit A, Staffa A, Gerges N, Zakrzewska M, Zakrzewski K, Liberski PP, Hauser P, Garami M, Klekner A, Bognar L, Zadeh G, Faury D, Pfister SM, Jabado N, Majewski J. Acta Neuropathol. 2013 May;125(5):659-69. doi: 10.1007/s00401-013-1095-8

  • Comment on "Widespread RNA and DNA sequence differences in the human transcriptome". Kleinman CL, Majewski J. Science. 2012 Mar 16;335(6074):1302; doi: 10.1126/science.1209658

  • RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression. Lalonde E, Ha KC, Wang Z, Bemmo A, Kleinman CL, Kwan T, Pastinen T, Majewski J. Genome Res. 2011 Apr;21(4):545-54. doi: 10.1101/gr.111211.110.