March 19, 2019  |  Human genetics research

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 assemblies. This population-specific reference is a valuable new resource that should accelerate the application of precision medicine for people of Japanese descent.
The National Human Genome Research Institute (NHGRI) is also helping with population diversity initiatives by creating new funding opportunities. A new Human Genome Reference Program grant will go toward the development of 350 high-quality human reference genomes as well as toward establishing metrics to define what constitutes a high-quality genome assembly. Goals for the program include learning more about human variation and its relation to different populations/ancestries and to include population-specific haplotype reference sequence in future reference genome models to avoid analysis bias. NHGRI hosted a recent webinar describing the program and linking a FAQ along with the funding announcements. Applications are due April 2.
To learn more about long-read sequencing of human genomes, we’ll be hosting a workshop at the upcoming Human Genome Meeting 2019 in Seoul, South Korea, on April 24. PacBio speakers including Jonas Korlach, William Rowell, Gregory Concepcion, and Wilson Cheng will present useful information about comprehensive variant detection, de novo assembly and phasing of human genomes using highly accurate long reads. The workshop will also cover data generated on our new Sequel II System.
Not attending HGM 2019? We also have plenty of information about population genetics on our website.

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