Bioinformatics tools for integrative 3D epigenomics

Principal Investigator: Mathieu Blanchette
Theme : Health
Competition : 2017 Bioinformatics and Computational Biology (B/CB) Competition
Status : In progress
Start : Oct. 1, 2018
End: Sept. 30, 2021
Budget : $1,122,405.00

Since the sequencing of the human genome at the beginning of the millennium, scientists have made great strides in understanding the role genes play in our identity, differences among individuals and our susceptibility to diseases such as cancer. Bioinformatics and computational tools are critical in visualizing and analyzing genetic data, but they fall short when it comes to three-dimensional (3D) analysis of how DNA is folded onto itself to fit into the nucleus, known as its chromatin architecture. This 3D structure defines the genome’s normal function during early cell differentiation and development and is known to drive many developmental disabilities as well as cancer.


There is a pressing need for a new generation of computational tools that integrates our knowledge of these 3D states, to help researchers make optimal use of the rapidly increasing amounts of data produced by modern DNA sequencing. Mathieu Blanchette and his team at McGill University will create and release improved computational and statistical tools for analyzing 3D data in their native 3D context.  Their new tools will be integrated with the team’s 3D visualization platform that will help scientists explore the data, build new hypotheses and test them in rigorous statistical frameworks.


The results of this project will be made widely available through open-source software that will enable statistically robust analysis of individual and groups of 3D genomic data; provide a virtual reality-based 3D genome browser supporting integrated visualization of genomic data; and include a toolset for integrative mining of genomic and epigenomic data in their 3D genome context. A lay version of the visualization platform will also be used for community outreach through exhibits in schools and museums.


Lead Genome Centre: Génome Québec


Co-project leaders: 

Jacek Majewski McGill University
Jérôme Waldispühl  McGill University