Tuesday, March 19, 2019

New Progress in Representing Population Diversity in Human Genomes

We’re seeing real progress in efforts to better characterize genomic population diversity. That’s particularly good news in light of mounting concerns about the implications of having genomic databases that over-represent individuals of European ancestry—a topic our CSO Jonas Korlach wrote about in Scientific American. Among the latest developments is the announcement from the Tohoku Medical Megabank Organization at Tohoku University about the release of the Japanese reference genome, known as JG1. The assembly is an integration of three de novo assembled genomes of male Japanese individuals. For this work, scientists used SMRT Sequencing with orthogonal technologies to produce highly contiguous…

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