Genome that includes more ethnicities could lead to better diagnosis, treatment
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Moving towards a more inclusive approach to medicine: Release of pangenome representing wide diversity of individuals ushers in new understanding of human biology and disease
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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 in the Department of Human Genetics at McGill University and the Director of Bioinformatics at the McGill Genome Center. He is among a large group of scientists who have recently published an article in Nature about the first generation of a new type of reference genome, called a pangenome, that represents 47 individuals that are as genetically diverse as possible, from Africa, Asia, and the Cari
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 elements with changes in accessibility, which would have likely been missed by previous approaches.