• Guillaume Bourque, Guillaume Bourque, McGill University

Genomic analyses often start by mapping reads to a reference genome. But, in every individual, there are DNA variants and sequences that are unique to that individual and reads coming from those regions will often be ignored. Thankfully, progress in long-read technologies and assembly can now efficiently deliver telomere-to-telomere genomes. Applying such approaches to a diverse panel of individuals combined with the development of graph-based genomic tools, the Human Pangenome Reference Consortium has just released the first human pangenome reference graph. This new resource is meant to alleviate the limitations of relying on a single linear human genome as the first step of most genetic and epigenetic analyses. In this talk, I will summarize some of the benefits of using the pangenome reference. In particular, I will show how this new reference can be used to extract missing signal when looking for genetic variants in a rare disease cohort called Genomic Answers for Kids. I will also describe the results of a new study using a genome-graph looking at epigenetic changes before and after influenza infection in monocyte-derived macrophages extracted from more than 30 individuals of different ancestry. Finally, considering the importance of data sharing in genomics, I will introduce a project called the Pan-Canadian Genome Library, which will establish the framework for Canada’s management and sharing of human genomic data.