Décrypter l'ADN humain non-codant avec l'épigénomique comparative


Guillaume Bourque

Centre d'innovation Génome Québec et Université McGill


Domaine : génétique humaine

Programme chercheurs-boursiers - Senior

Concours 2017-2018

The sequencing of the human genome more than a decade ago was a major scientific accomplishment that has had a profound impact on our knowledge of human biology and its translation towards improved healthcare. So far, much of our progress is attributable to a better understanding of the protein-coding regions, which represents only 2% of the human genome.

In contrast, the roles of non-coding DNA, which includes the regulatory code that dictates how transcription is orchestrated in different cell types and in response to the environment, remain elusive. To gain insights into the molecular mechanisms of cells and to inform future therapies, there is a need to integrate and analyze multiple levels of genetic and epigenomic information from various human tissues. My lab has recently shown that by using an evolutionary perspective to interpret genomics datasets, we can better decrypt the role of non-coding human DNA.

Specifically, we showed that transposable elements have had a major impact on mammalian gene regulation by creating species-specific regulatory elements. The goal of my research program is to characterize the epigenome of different cell-types in various primate-species to better understand how the genome has evolve and to better predict the impact of variants in disease. Computational methods such as the ones we develop are a stepping-stone to the successful realization of major genomic medicine initiatives that represent the future of health care.