Project Description

Dr Mathieu Bourgey


Bioinformatics Manager
Canadian Centre for Computational Genomics (C3G), Montréal Node McGill University and Genome Quebec Innovation Centre, Canada

Long read sequencing: an overview of technologies and applications

Next generation sequencing & bioinformatics

Monday 4 July 2016

Mathieu Bourgey is the manager of the Research and Development team at the Montreal node of the Canadian Centre for Computational Genomics. He completed his Master degree with honours in 2003 at the University Pierre and Marie Currie – Paris VI (France) working on developing evolution model of genomics large repeats. He transitioned to University of Paris-Sud XI (France) for his PhD work on modeling risk of developing the Coeliac disease based on genetic and familial information. Following this, his postdoctoral research at University of Montreal focused on modeling gene-gene interactions and foeto-maternal interactions in the susceptibility to childhood leukemia. After completing his postdoctoral studies in 2010, he participated at the development of the bioinformatics side of a large next generation sequencing project of Acute Lymphoblastic Leukemia samples. In 2011, Mathieu joined the bioinformatics platform of the McGill University and Genome Quebec Innovation Centre (MUGQIC) as senior analyst where he was involved in the analysis of a wide range of genomics projects from bacteria to humans using all the various type of sequencing technology available (Illumina, 454, Life Technology and Pacbio). In 2014, he became team leader of the data production and service at the MUGQIC bioinformatics platform and in 2015 he started managing the bioinformatics research and development group. He manage software and analysis pipeline development on a wide range of next‐generation sequencing platforms technology as well as taking part an national and international projects studying cancer genomics, genome assembly and transcriptomics. He is also implicated in the organization of international genomics workshops.

Next-generation sequencing technologies have offered vast improvements over traditional Sanger sequencing. However, these major sequencing technologies suffer from a main limitation, the short lengths of their reads. Short reads are poorly suited to study complex genomic regions or for Nonreference-Based analysis. Long reads offer an alternative approach to overcome many of these limitations. With longer reads we can sequence through extended repetitive regions, detect base modifications, identify gene isoforms and assemble finished genomes. Pacific BioSciences, Oxford Nanopore and Illumina are the three major competitors which developed different long reads sequencing technologies. Each of their technologies has specific limitations that need to be taken into consideration while designing a long read sequencing project.