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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 sciencedaily.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from sciencedaily.com Daily Mail and Mail on Sunday newspapers.
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 ....
A group of researchers led by a Canadian scientist have identified a rare gene mutation that could be associated with an increased risk of breast cancer. In a peer-reviewed study published in the American Journal of Human Genetics, the researchers identified a mutation in a gene called ATRIP. ....
Scientists have developed an assessment tool for each province based on COVID-19 vaccine protection, current infections, health-care system impact and mortality. ....
Differences in ICU patients who recovered or died from COVID-19 have helped researchers identify three drugs that could work against severe disease. ....