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Today at the McGill Genome Centre, the Honourable Mark Holland, Minister of Health, announced a $15M investment over five years to create a Pan-Canadian Genome Library (PCGL), which will allow for easier sharing of genomic data across the country, and aid in the development of a national strategy to capture, store and access Canadian data in an equitable, secure, and sustainable manner. The funding comes from the Canadian Institutes of Health Research and builds on investments from the Government of Canada’s Drugs for Rare Diseases Strategy.

The first human genome, which has served as the reference until now, was released approximately 20 years ago. It was a landmark accomplishment that had a huge impact on biomedical research and changed the way scientists study human biology. But it was based on just a few individuals and did not capture the full genetic diversity of the human population. “Since this reference has been at the core of most genomic analysis, it leads to a bias and we might miss important things happening in regions of the human genome that are not present in the reference,” says Guillaume Bourque, a professor ...

Researchers were able to identify changes in the accessibility (that is, the 'readability') of transposable elements. To do this, the researchers used an approach combining various sets of multiomics data, which characterize and quantify collections of biomolecules in cells or organisms. One was the transcriptome, which consists of all copies of RNA transcribed from DNA in the cell. The other was the epigenome, which is the collection of chemical changes to DNA that modify gene expression. An advantage of this multiomics approach is that they were able to identify families of transposable elem...

An international team supported by the U.S. NIH released 47 genomes that together provide the most comprehensive look yet at the molecular underpinnings of human diversity.

On Wednesday, a international team supported by the U.S. NIH released 47 genomes that together provide the most comprehensive look yet at the molecular underpinnings of human diversity